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Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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2 |
Drug load and memory during intracarotid amobarbital procedure in epilepsy. Acta Neurol Scand. 2021 Nov;144(5):585-591.
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3 |
New molecular targets for antiepileptic drugs: alpha(2)delta, SV2A, and K(v)7/KCNQ/M potassium channels. Curr Neurol Neurosci Rep. 2008 Jul;8(4):345-52.
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5339).
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7149).
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6963).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 3364).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7182).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5473).
|
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Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
|
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Antibodies and venom peptides: new modalities for ion channels. Nat Rev Drug Discov. 2019 May;18(5):339-357.
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2622).
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6826).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7223).
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15 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7230).
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16 |
Methsuximide FDA Label
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17 |
Malformation in infants of mothers with epilepsy receiving antiepileptic drugs. Neurology. 1992 Apr;42(4 Suppl 5):68-74.
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18 |
Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
|
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Drug information of Nitrazepam, 2008. eduDrugs.
|
20 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7254).
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Paramethadione FDA Label
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22 |
Pentobarbital FDA Label
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7265).
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Phenobarbital FDA Label
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Phensuximide FDA Label
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Therapeutic Drug Monitoring of Antiepileptic Drugs in Epilepsy: A 2018 Update. Ther Drug Monit. 2018 Oct;40(5):526-548. doi: 10.1097/FTD.0000000000000546.
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Pregabalin FDA Label
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5338).
|
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7470).
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Secobarbital FDA Label
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Sertraline FDA Label
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5469).
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Thiopental FDA Label
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4818).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6849).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7316).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7009).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4821).
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7047).
|
40 |
Progress report on new antiepileptic drugs: a summary of the Ninth Eilat Conference (EILAT IX). Epilepsy Res. 2009 Jan;83(1):1-43.
|
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800032715)
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ClinicalTrials.gov (NCT02535091) Safety and Pharmacokinetic Study of YKP3089 as Adjunctive Therapy in Subjects With Partial Onset Seizures.
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ClinicalTrials.gov (NCT03370120) Study to Test the Safety and Efficacy of Padsevonil as Adjunctive Treatment of Focal-onset Seizures in Adult Subjects With Drug-resistant Epilepsy. U.S. National Institutes of Health.
|
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Pralnacasan, an inhibitor of interleukin-1beta converting enzyme, reduces joint damage in two murine models of osteoarthritis. Osteoarthritis Cartilage. 2003 Oct;11(10):738-46.
|
45 |
ClinicalTrials.gov (NCT02365610) A Study of GWP42006 in People With Focal Seizures - Part B. U.S. National Institutes of Health.
|
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Kv7 potassium channel activation with ICA-105665 reduces photoparoxysmal EEG responses in patients with epilepsy. Epilepsia. 2013 Aug;54(8):1437-43.
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ClinicalTrials.gov (NCT00579384) A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram (EEG) Response in Patients With Photosensitive Epilepsy. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT04836559) A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of JNJ-40411813 as Adjunctive Therapy in Subjects With Focal Onset Seizures With Suboptimal Response to Levetiracetam or Brivaracetam. U.S.National Institutes of Health.
|
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The efficacy of the AMPA receptor antagonist NS1209 and lidocaine in nerve injury pain: a randomized, double-blind, placebo-controlled, three-way crossover study. Anesth Analg. 2009 Apr;108(4):1311-9.
|
50 |
ClinicalTrials.gov (NCT01302873) Study of BGG492 in Patients With Chronic Subjective Tinnitus. U.S. National Institutes of Health.
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51 |
ClinicalTrials.gov (NCT00939653) T2007-002 Clofarabine, Etoposide, Cyclophosphamide in Relapsed Acute Myelogenous Leukemia (AML). U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT00534560) Dose Ranging Study of the Efficacy and Tolerability of Tonabersat in the Prophylaxis of Migraine Headache. U.S. National Institutes of Health.
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53 |
ClinicalTrials.gov (NCT02495844) A Study of UCB0942 in Adult Patients With Highly Drug-resistant Focal Epilepsy.
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800035668)
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MDL 27,531 reduces spontaneous hindlimb contractions in rats with chronic transections of the spinal cord. Neurosci Lett. 1992 Nov 23;147(1):101-5.
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56 |
ClinicalTrials.gov (NCT01062867) First Administration to Man Of Org 25435 a New Intravenous Anesthetic. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT01691274) A Study In Healthy People To Evaluate Safety, Toleration And Time Course Of Plasma Concentration Of Multiple Oral Doses Of PF-04895162. U.S. National Institutes of Health.
|
58 |
Emerging drugs for epilepsy. Expert Opin Emerg Drugs. 2007 Sep;12(3):407-22.
|
59 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002233)
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60 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800003060)
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61 |
Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010984)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010724)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002235)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010331)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002249)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800012515)
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5130).
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002237)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800021837)
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 1069).
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800001960)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011757)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011029)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011792)
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The Development of a New Manufacturing Route to the Novel Anticonvulsant, SB406725A. Organic Process Research & Development. 01/2010; 14(1):108-113.
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005802)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005804)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005355)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800003367)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800008896)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800016674)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800016675)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800019092)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002236)
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005172)
|
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The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
|
87 |
URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 972).
|
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Valproic Acid FDA Label
|
89 |
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
|
90 |
Analysis of Clinical Characteristics and Poor Prognostic Predictors in Patients With an Initial Diagnosis of Autoimmune Encephalitis.Front Immunol. 2019 Jun 7;10:1286. doi: 10.3389/fimmu.2019.01286. eCollection 2019.
|
91 |
A review of filamin A mutations and associated interstitial lung disease.Eur J Pediatr. 2019 Feb;178(2):121-129. doi: 10.1007/s00431-018-3301-0. Epub 2018 Dec 13.
|
92 |
Spectrum of GABAA receptor variants in epilepsy.Curr Opin Neurol. 2019 Apr;32(2):183-190. doi: 10.1097/WCO.0000000000000657.
|
93 |
De novo variants in neurodevelopmental disorders with epilepsy.Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
|
94 |
Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.Prog Brain Res. 2014;213:55-85. doi: 10.1016/B978-0-444-63326-2.00003-X.
|
95 |
Selective deletion of glutamine synthetase in the mouse cerebral cortex induces glial dysfunction and vascular impairment that precede epilepsy and neurodegeneration.Neurochem Int. 2019 Feb;123:22-33. doi: 10.1016/j.neuint.2018.07.009. Epub 2018 Jul 24.
|
96 |
Transient Switching of NMDA-Dependent Long-Term Synaptic Potentiation in CA3-CA1 Hippocampal Synapses to mGluR(1)-Dependent Potentiation After Pentylenetetrazole-Induced Acute Seizures in Young Rats.Cell Mol Neurobiol. 2019 Mar;39(2):287-300. doi: 10.1007/s10571-018-00647-3. Epub 2019 Jan 3.
|
97 |
Cardiorespiratory profiling reveals primary breathing dysfunction in Kcna1-null mice: Implications for sudden unexpected death in epilepsy.Neurobiol Dis. 2019 Jul;127:502-511. doi: 10.1016/j.nbd.2019.04.006. Epub 2019 Apr 8.
|
98 |
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7.
|
99 |
Novel venom-derived inhibitors of the human EAG channel, a putative antiepileptic drug target.Biochem Pharmacol. 2018 Dec;158:60-72. doi: 10.1016/j.bcp.2018.08.038. Epub 2018 Aug 25.
|
100 |
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.
|
101 |
Neurobiology and consequences of social isolation stress in animal model-A comprehensive review.Biomed Pharmacother. 2018 Sep;105:1205-1222. doi: 10.1016/j.biopha.2018.05.086. Epub 2018 Jun 22.
|
102 |
PLPP/CIN-mediated NEDD4-2 S448 dephosphorylation regulates neuronal excitability via GluA1 ubiquitination.Cell Death Dis. 2019 Jul 18;10(8):545. doi: 10.1038/s41419-019-1781-0.
|
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G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters.Neurol Sci. 2019 Jul;40(7):1457-1460. doi: 10.1007/s10072-019-03752-3. Epub 2019 Mar 4.
|
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Expression of Multidrug Resistance Genes in Peripheral Blood of Patients with Refractory Epilepsy and the Reverse Effect of Oxcarbazepine on Its Expression.Iran J Public Health. 2018 Jan;47(1):40-48.
|
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Investigation of inhibitory properties of some hydrazone compounds on hCA I, hCA II and AChE enzymes.Bioorg Chem. 2019 May;86:316-321. doi: 10.1016/j.bioorg.2019.02.008. Epub 2019 Feb 4.
|
106 |
Insulin attenuates epileptiform discharge-induced oxidative stress by increasing zinc-2-glycoprotein in primary cultured cortical neurons.Neuroreport. 2019 May 22;30(8):580-585. doi: 10.1097/WNR.0000000000001250.
|
107 |
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.Neurobiol Dis. 2005 Dec;20(3):799-804. doi: 10.1016/j.nbd.2005.05.013. Epub 2005 Jun 17.
|
108 |
Neurovascular Drug Biotransformation Machinery in Focal Human Epilepsies: Brain CYP3A4 Correlates with Seizure Frequency and Antiepileptic Drug Therapy.Mol Neurobiol. 2019 Dec;56(12):8392-8407. doi: 10.1007/s12035-019-01673-y. Epub 2019 Jun 26.
|
109 |
Neural Networks in Generalized Epilepsy and Novel Antiepileptic Drugs.Curr Pharm Des. 2019;25(4):396-400. doi: 10.2174/1381612825666190319121505.
|
110 |
Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28.
|
111 |
Positive modulation of mGluR5 attenuates seizures and reduces TNF-(+) macrophages and microglia in the brain in a murine model of virus-induced temporal lobe epilepsy.Exp Neurol. 2019 Jan;311:194-204. doi: 10.1016/j.expneurol.2018.10.006. Epub 2018 Oct 11.
|
112 |
Effects of HCN2 Mutations on Dendritic Excitability and Synaptic Plasticity: A Computational Study.Neuroscience. 2019 Dec 15;423:148-161. doi: 10.1016/j.neuroscience.2019.10.019. Epub 2019 Nov 1.
|
113 |
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.Neuroscientist. 2018 Aug;24(4):368-380. doi: 10.1177/1073858418763752. Epub 2018 Mar 15.
|
114 |
Complexes formed with integrin-5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling.FASEB J. 2019 Dec;33(12):14680-14689. doi: 10.1096/fj.201901792R. Epub 2019 Nov 2.
|
115 |
Seizure-like episodes and EEG abnormalities in patients with long QT syndrome.Seizure. 2018 Oct;61:214-220. doi: 10.1016/j.seizure.2018.08.020. Epub 2018 Aug 27.
|
116 |
Nervous system KV7 disorders: breakdown of a subthreshold brake.J Physiol. 2008 Apr 1;586(7):1791-801. doi: 10.1113/jphysiol.2008.150656. Epub 2008 Jan 31.
|
117 |
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.
|
118 |
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 2017 Feb;136(2):253-261. doi: 10.1007/s00439-016-1751-x. Epub 2016 Nov 30.
|
119 |
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.PLoS One. 2017 Oct 20;12(10):e0186919. doi: 10.1371/journal.pone.0186919. eCollection 2017.
|
120 |
Increased Bcl-w expression following focally evoked limbic seizures in the rat.Neurosci Lett. 2001 Jun 15;305(3):153-6. doi: 10.1016/s0304-3940(01)01849-3.
|
121 |
Autoradiographic analysis of rat brain kinin B1 and B2 receptors: normal distribution and alterations induced by epilepsy.J Comp Neurol. 2003 Jul 7;461(4):506-19. doi: 10.1002/cne.10706.
|
122 |
Acute phase expression pattern of ZnTs, LC3, and beclin-1 in rat Hippocampus and its regulation by 3-methyladenine following recurrent neonatal seizures.Biol Trace Elem Res. 2011 Oct;143(1):320-31. doi: 10.1007/s12011-010-8836-5. Epub 2010 Sep 14.
|
123 |
Involvement of over-expressed BMP4 in pentylenetetrazol kindling-induced cell proliferation in the dentate gyrus of adult rats.Biochem Biophys Res Commun. 2007 Mar 30;355(1):54-60. doi: 10.1016/j.bbrc.2007.01.107. Epub 2007 Jan 29.
|
124 |
[Protective effects of levetiracetam and simvastatin on pilocarpine-induced epilepsy in rat models].Sichuan Da Xue Xue Bao Yi Xue Ban. 2015 Mar;46(2):201-4.
|
125 |
Intracellular Peptides in Cell Biology and Pharmacology.Biomolecules. 2019 Apr 16;9(4):150. doi: 10.3390/biom9040150.
|
126 |
The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning.Hippocampus. 2019 Feb;29(2):102-110. doi: 10.1002/hipo.23015. Epub 2018 Dec 6.
|
127 |
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30.
|
128 |
Inhibition of Cgkii Suppresses Seizure Activity and Hippocampal Excitation by Regulating the Postsynaptic Delivery of Glua1.Cell Physiol Biochem. 2018;46(1):160-177. doi: 10.1159/000488419. Epub 2018 Mar 21.
|
129 |
Uncaria rhynchophylla upregulates the expression of MIF and cyclophilin A in kainic acid-induced epilepsy rats: A proteomic analysis.Am J Chin Med. 2010;38(4):745-59. doi: 10.1142/S0192415X10008214.
|
130 |
[Expression of Merlin in cortex of temporal lobe and in hippocampal CA1 region of the Kindling Model of Epilepsy induced by corciaria lactone in rats].Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 Jan;37(1):115-7.
|
131 |
Review of studies that have used knockout mice to assess normal function of prion protein under immunological or pathophysiological stress.Microbiol Immunol. 2014 Jul;58(7):361-74. doi: 10.1111/1348-0421.12162.
|
132 |
Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine.Neurol Res. 2010 Feb;32(1):106-12. doi: 10.1179/174313209X408954. Epub 2009 Jun 30.
|
133 |
The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy.Neurosci Lett. 1978 Jan;7(1):83-7. doi: 10.1016/0304-3940(78)90117-9.
|
134 |
Pregabalin peptides: conformational comparison of (3)- and (4)-substituted -amino acids in pentapeptides.Amino Acids. 2019 Sep;51(9):1297-1306. doi: 10.1007/s00726-019-02768-5. Epub 2019 Aug 19.
|
135 |
ABC Transporters in Neurological Disorders: An Important Gateway for Botanical Compounds Mediated Neuro-Therapeutics.Curr Top Med Chem. 2019;19(10):795-811. doi: 10.2174/1568026619666190412121811.
|
136 |
ABHD6: Its Place in Endocannabinoid Signaling and Beyond.Trends Pharmacol Sci. 2019 Apr;40(4):267-277. doi: 10.1016/j.tips.2019.02.002. Epub 2019 Mar 7.
|
137 |
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.Cytogenet Cell Genet. 1996;74(3):221-4. doi: 10.1159/000134420.
|
138 |
Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy.Neurochem Res. 2016 Jul;41(7):1774-83. doi: 10.1007/s11064-016-1893-1. Epub 2016 Apr 2.
|
139 |
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.J Physiol. 2005 Dec 1;569(Pt 2):433-45. doi: 10.1113/jphysiol.2005.094326. Epub 2005 Oct 6.
|
140 |
Alpha2A adrenergic receptor activation inhibits epileptiform activity in the rat hippocampal CA3 region.Mol Pharmacol. 2007 Jun;71(6):1572-81. doi: 10.1124/mol.106.031773. Epub 2007 Mar 6.
|
141 |
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29.
|
142 |
Anticonvulsant action of a selective phosphatidylinositol-3-kinase inhibitor LY294002 in pentylenetetrazole-mediated convulsions in zebrafish.Epilepsy Res. 2019 Nov;157:106207. doi: 10.1016/j.eplepsyres.2019.106207. Epub 2019 Sep 17.
|
143 |
Glucose Deficiency Elevates Acid-Sensing Ion Channel 2a Expression and Increases Seizure Susceptibility in Temporal Lobe Epilepsy.Sci Rep. 2017 Jul 19;7(1):5870. doi: 10.1038/s41598-017-05038-0.
|
144 |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25.
|
145 |
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.
|
146 |
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.
|
147 |
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.Clin Genet. 2018 Feb;93(2):368-373. doi: 10.1111/cge.13067. Epub 2017 Oct 6.
|
148 |
Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion.Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):140-141. doi: 10.1080/21678421.2016.1231825. Epub 2016 Sep 21.
|
149 |
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.Cephalalgia. 2018 Feb;38(2):361-373. doi: 10.1177/0333102416686347. Epub 2017 Jan 6.
|
150 |
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.
|
151 |
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.
|
152 |
Expanding the Phenotypic Spectrum of CACNA1H Mutations.Pediatr Neurol. 2019 Apr;93:50-55. doi: 10.1016/j.pediatrneurol.2018.11.017. Epub 2018 Dec 19.
|
153 |
Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.Seizure. 2000 Oct;9(7):493-7. doi: 10.1053/seiz.2000.0454.
|
154 |
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.J Med Genet. 2018 Sep;55(9):607-616. doi: 10.1136/jmedgenet-2018-105319. Epub 2018 May 22.
|
155 |
Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.Am J Pathol. 2004 Sep;165(3):1007-18. doi: 10.1016/S0002-9440(10)63362-7.
|
156 |
Expression Analysis of CYFIP1 and CAMKK2 Genes in the Blood of Epileptic and Schizophrenic Patients.J Mol Neurosci. 2018 Jul;65(3):336-342. doi: 10.1007/s12031-018-1106-2. Epub 2018 Jul 11.
|
157 |
Endothelial Cdk5 deficit leads to the development of spontaneous epilepsy through CXCL1/CXCR2-mediated reactive astrogliosis.J Exp Med. 2020 Jan 6;217(1):e20180992. doi: 10.1084/jem.20180992.
|
158 |
Theta Phase Synchronization between the Human Hippocampus and Prefrontal Cortex Increases during Encoding of Unexpected Information: A Case Study.J Cogn Neurosci. 2018 Nov;30(11):1646-1656. doi: 10.1162/jocn_a_01302. Epub 2018 Jun 28.
|
159 |
Acetylcholine-induced seizure-like activity and modified cholinergic gene expression in chronically epileptic rats.Eur J Neurosci. 2008 Feb;27(4):965-75. doi: 10.1111/j.1460-9568.2008.06070.x.
|
160 |
Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study.Pharmgenomics Pers Med. 2019 Sep 4;12:225-233. doi: 10.2147/PGPM.S212433. eCollection 2019.
|
161 |
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.
|
162 |
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.Epilepsia. 2015 May;56(5):e53-7. doi: 10.1111/epi.12967. Epub 2015 Apr 3.
|
163 |
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?.Seizure. 2018 Mar;56:88-91. doi: 10.1016/j.seizure.2018.02.005. Epub 2018 Feb 10.
|
164 |
The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function.Neuropharmacology. 2015 Sep;96(Pt B):274-88. doi: 10.1016/j.neuropharm.2015.02.006. Epub 2015 Feb 19.
|
165 |
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.Epilepsy Res. 2019 Aug;154:55-61. doi: 10.1016/j.eplepsyres.2019.04.005. Epub 2019 Apr 22.
|
166 |
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.Am J Med Genet A. 2016 Nov;170(11):2988-2992. doi: 10.1002/ajmg.a.37755. Epub 2016 Aug 19.
|
167 |
Oestrogen receptor ER and ER agonists ameliorate oxidative brain injury and improve memory dysfunction in rats with an epileptic seizure.Exp Physiol. 2019 Dec;104(12):1911-1928. doi: 10.1113/EP087986. Epub 2019 Nov 15.
|
168 |
The Architecture of the Rag GTPase Signaling Network.Biomolecules. 2017 Jun 30;7(3):48. doi: 10.3390/biom7030048.
|
169 |
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.Hum Mutat. 2019 Mar;40(3):281-287. doi: 10.1002/humu.23690. Epub 2018 Dec 8.
|
170 |
Presynaptic Endosomal Cathepsin D Regulates the Biogenesis of GABAergic Synaptic Vesicles.Cell Rep. 2019 Jul 23;28(4):1015-1028.e5. doi: 10.1016/j.celrep.2019.06.006.
|
171 |
Effects of CYP2C19 and P450 oxidoreductase polymorphisms on the population pharmacokinetics of clobazam and N-desmethylclobazam in japanese patients with epilepsy.Ther Drug Monit. 2014 Jun;36(3):302-9. doi: 10.1097/FTD.0000000000000015.
|
172 |
Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy.Expert Opin Drug Metab Toxicol. 2018 May;14(5):505-512. doi: 10.1080/17425255.2018.1473377. Epub 2018 May 28.
|
173 |
CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment.Pharmgenomics Pers Med. 2018 Mar 29;11:51-58. doi: 10.2147/PGPM.S108113. eCollection 2018.
|
174 |
Profound reduction in the tamoxifen active metabolite endoxifen in a patient on phenytoin for epilepsy compared with a CYP2D6 genotype matched cohort.Pharmacogenet Genomics. 2014 Jul;24(7):367-9. doi: 10.1097/FPC.0000000000000051.
|
175 |
The role of S-nitrosylation of kainate-type of ionotropic glutamate receptor 2 in epilepsy induced by kainic acid.J Neurochem. 2018 Feb;144(3):255-270. doi: 10.1111/jnc.14266. Epub 2017 Dec 26.
|
176 |
PI3K-mTOR-S6K Signaling Mediates Neuronal Viability via Collapsin Response Mediator Protein-2 Expression.Front Mol Neurosci. 2017 Sep 15;10:288. doi: 10.3389/fnmol.2017.00288. eCollection 2017.
|
177 |
Association study of functional polymorphisms of dopaminergic pathway in epilepsy-related factors of temporal lobe epilepsy in Brazilian population.Eur J Neurol. 2018 Jun;25(6):895-901. doi: 10.1111/ene.13631. Epub 2018 Apr 10.
|
178 |
eEF2K/eEF2 Pathway Controls the Excitation/Inhibition Balance and Susceptibility to Epileptic Seizures.Cereb Cortex. 2017 Mar 1;27(3):2226-2248. doi: 10.1093/cercor/bhw075.
|
179 |
Dimethylation of Histone 3 Lysine 9 is sensitive to the epileptic activity, and affects the transcriptional regulation of the potassium channel Kcnj10 gene in epileptic rats.Mol Med Rep. 2018 Jan;17(1):1368-1374. doi: 10.3892/mmr.2017.7942. Epub 2017 Nov 3.
|
180 |
GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.Epilepsy Res. 2015 Sep;115:88-94. doi: 10.1016/j.eplepsyres.2015.05.014. Epub 2015 Jun 2.
|
181 |
[Effects of edaravone on IRE1 mRNA expression and neuronal apoptosis in the hippocampus of rats with status convulsivus].Zhongguo Dang Dai Er Ke Za Zhi. 2009 Jun;11(6):471-5.
|
182 |
GPR40 modulates epileptic seizure and NMDA receptor function.Sci Adv. 2018 Oct 17;4(10):eaau2357. doi: 10.1126/sciadv.aau2357. eCollection 2018 Oct.
|
183 |
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. doi: 10.1016/j.ajhg.2009.08.005.
|
184 |
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.J Med Genet. 1987 Nov;24(11):678-83. doi: 10.1136/jmg.24.11.678.
|
185 |
The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.Cereb Cortex. 2017 Oct 1;27(10):5014-5023. doi: 10.1093/cercor/bhx207.
|
186 |
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.Brain. 2018 Aug 1;141(8):2392-2405. doi: 10.1093/brain/awy171.
|
187 |
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.
|
188 |
Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.Clin Chim Acta. 2011 Jun 11;412(13-14):1244-8. doi: 10.1016/j.cca.2011.03.018. Epub 2011 Mar 21.
|
189 |
Atlastin-1 modulates seizure activity and neuronal excitability.CNS Neurosci Ther. 2020 Mar;26(3):385-393. doi: 10.1111/cns.13258. Epub 2019 Nov 14.
|
190 |
Pinellia Total Alkaloids Modulate the GABAergic System in Hippocampal Formation on Pilocarpine-Induced Epileptic Rats.Chin J Integr Med. 2020 Feb;26(2):138-145. doi: 10.1007/s11655-019-2944-7. Epub 2019 May 15.
|
191 |
Galanin contributes to monoaminergic dysfunction and to dependent neurobehavioral comorbidities of epilepsy.Exp Neurol. 2017 Mar;289:64-72. doi: 10.1016/j.expneurol.2016.12.008. Epub 2016 Dec 22.
|
192 |
Growth Associated Protein 43 (GAP-43) as a Novel Target for the Diagnosis, Treatment and Prevention of Epileptogenesis.Sci Rep. 2017 Dec 18;7(1):17702. doi: 10.1038/s41598-017-17377-z.
|
193 |
Nuclear accumulation of GAPDH, GluA2 and p53 in post-mortem substantia nigral region of patients with Parkinson's disease.Neurosci Lett. 2020 Jan 18;716:134641. doi: 10.1016/j.neulet.2019.134641. Epub 2019 Nov 20.
|
194 |
Role of glyoxalase I gene polymorphisms in late-onset epilepsy and drug-resistant epilepsy.J Neurol Sci. 2016 Apr 15;363:200-6. doi: 10.1016/j.jns.2016.01.052. Epub 2016 Jan 27.
|
195 |
Phenylalanine derivatives with modulating effects on human 1-glycine receptors and anticonvulsant activity in strychnine-induced seizure model in male adult rats.Epilepsy Res. 2017 Dec;138:124-131. doi: 10.1016/j.eplepsyres.2017.05.008. Epub 2017 May 26.
|
196 |
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16.
|
197 |
Interaction among GRIK2 gene on epilepsy susceptibility in Chinese children.Acta Neurol Scand. 2019 Jun;139(6):540-545. doi: 10.1111/ane.13089. Epub 2019 Apr 9.
|
198 |
GluR3B Ab's induced oligodendrocyte precursor cells excitotoxicity via mitochondrial dysfunction.Brain Res Bull. 2017 Apr;130:60-66. doi: 10.1016/j.brainresbull.2016.12.016. Epub 2017 Jan 4.
|
199 |
Changes in glutamate receptor subunit composition in hippocampus and cortex in patients with refractory epilepsy.J Neurol Sci. 1997 Dec 9;153(1):35-45. doi: 10.1016/s0022-510x(97)00180-9.
|
200 |
Anxiety-like features and spatial memory problems as a consequence of hippocampal SV2A expression.PLoS One. 2019 Jun 5;14(6):e0217882. doi: 10.1371/journal.pone.0217882. eCollection 2019.
|
201 |
Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.Nat Commun. 2014 Aug 1;5:4563. doi: 10.1038/ncomms5563.
|
202 |
GRIN2D variants in three cases of developmental and epileptic encephalopathy.Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454.
|
203 |
The expression of G protein-coupled receptor kinase 5 and its interaction with dendritic marker microtubule-associated protein-2 after status epilepticus.Epilepsy Res. 2017 Dec;138:62-70. doi: 10.1016/j.eplepsyres.2017.10.011. Epub 2017 Oct 13.
|
204 |
Melatonin Alleviates the Epilepsy-Associated Impairments in Hippocampal LTP and Spatial Learning Through Rescue of Surface GluR2 Expression at Hippocampal CA1 Synapses.Neurochem Res. 2017 May;42(5):1438-1448. doi: 10.1007/s11064-017-2200-5. Epub 2017 Feb 18.
|
205 |
Prolonged febrile seizure history exacerbates seizure severity in a pentylenetetrazole rat model of epilepsy.Brain Res Bull. 2020 Feb;155:137-144. doi: 10.1016/j.brainresbull.2019.11.021. Epub 2019 Dec 14.
|
206 |
The mGlu7 receptor provides protective effects against epileptogenesis and epileptic seizures.Neurobiol Dis. 2019 Sep;129:13-28. doi: 10.1016/j.nbd.2019.04.016. Epub 2019 Apr 30.
|
207 |
Neuroprotective role of Bacopa monnieri extract in epilepsy and effect of glucose supplementation during hypoxia: glutamate receptor gene expression.Neurochem Res. 2008 Sep;33(9):1663-71. doi: 10.1007/s11064-007-9513-8. Epub 2007 Oct 18.
|
208 |
Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.Haematologica. 2007 Dec;92(12):e123-5. doi: 10.3324/haematol.11973.
|
209 |
The Lactate Receptor HCAR1 Modulates Neuronal Network Activity through the Activation of G() and G() Subunits.J Neurosci. 2019 Jun 5;39(23):4422-4433. doi: 10.1523/JNEUROSCI.2092-18.2019. Epub 2019 Mar 29.
|
210 |
Muscle weakness and impaired motor coordination in hyperpolarization-activated cyclic nucleotide-gated potassium channel 1-deficient rats.Exp Anim. 2020 Jan 29;69(1):11-17. doi: 10.1538/expanim.19-0067. Epub 2019 Jul 9.
|
211 |
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018.
|
212 |
Role of Histone Deacetylases (HDACs) in Epilepsy and Epileptogenesis.Curr Pharm Des. 2017;23(37):5546-5562. doi: 10.2174/1381612823666171024130001.
|
213 |
Glycyrrhizin, an HMGB1 inhibitor, exhibits neuroprotective effects in rats after lithium-pilocarpine-induced status epilepticus.J Pharm Pharmacol. 2019 Mar;71(3):390-399. doi: 10.1111/jphp.13040. Epub 2018 Nov 12.
|
214 |
Serotonergic modulation of absence-like seizures in groggy rats: a novel rat model of absence epilepsy.J Pharmacol Sci. 2010;114(1):99-105. doi: 10.1254/jphs.10156fp. Epub 2010 Aug 21.
|
215 |
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.Clin Genet. 2016 May;89(5):574-83. doi: 10.1111/cge.12738. Epub 2016 Feb 9.
|
216 |
Akt pathway activation and increased neuropeptide Y mRNA expression in the rat hippocampus: implications for seizure blockade.Neuropeptides. 2010 Apr;44(2):169-76. doi: 10.1016/j.npep.2009.12.007. Epub 2010 Jan 12.
|
217 |
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.Seizure. 2019 Mar;66:26-30. doi: 10.1016/j.seizure.2019.01.025. Epub 2019 Jan 28.
|
218 |
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.Sleep. 2020 Apr 15;43(4):zsz255. doi: 10.1093/sleep/zsz255.
|
219 |
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.Am J Med Genet A. 2011 Jan;155A(1):113-9. doi: 10.1002/ajmg.a.33735. Epub 2010 Dec 10.
|
220 |
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.Neurol Sci. 2020 Apr;41(4):851-857. doi: 10.1007/s10072-019-04113-w. Epub 2019 Dec 6.
|
221 |
Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.J Gen Physiol. 2019 Feb 4;151(2):247-257. doi: 10.1085/jgp.201812221. Epub 2018 Dec 21.
|
222 |
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22.
|
223 |
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.
|
224 |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?.Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23.
|
225 |
Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy. Neuron. 2012 Dec 6;76(5):945-61. doi: 10.1016/j.neuron.2012.10.012.
|
226 |
Decreased levels of active uPA and KLK8 assessed by [(111) In]MICA-401 binding correlate with the seizure burden in an animal model of temporal lobe epilepsy.Epilepsia. 2017 Sep;58(9):1615-1625. doi: 10.1111/epi.13845. Epub 2017 Jul 19.
|
227 |
Differential Gene Expression Profile Induced by Valproic Acid (VPA) in Pediatric Epileptic Patients.Genes (Basel). 2018 Jun 28;9(7):328. doi: 10.3390/genes9070328.
|
228 |
Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding.Hum Brain Mapp. 2018 Apr;39(4):1596-1606. doi: 10.1002/hbm.23937. Epub 2017 Dec 23.
|
229 |
Use of the mixed reality tool "VSI Patient Education" for more comprehensible and imaginable patient educations before epilepsy surgery and stereotactic implantation of DBS or stereo-EEG electrodes.Epilepsy Res. 2020 Jan;159:106247. doi: 10.1016/j.eplepsyres.2019.106247. Epub 2019 Nov 26.
|
230 |
Role of JNK isoforms in the kainic acid experimental model of epilepsy and neurodegeneration.Front Biosci (Landmark Ed). 2017 Jan 1;22(5):795-814. doi: 10.2741/4517.
|
231 |
S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.Transl Psychiatry. 2019 Jan 29;9(1):44. doi: 10.1038/s41398-019-0388-7.
|
232 |
Glycine transporter 1 is a target for the treatment of epilepsy.Neuropharmacology. 2015 Dec;99:554-65. doi: 10.1016/j.neuropharm.2015.08.031. Epub 2015 Aug 21.
|
233 |
Acute epileptic seizures in myelin oligodendrocyte glycoprotein encephalomyelitis and neuromyelitis optica spectrum disorder: A comparative cohort study.Mult Scler Relat Disord. 2019 Jan;27:281-288. doi: 10.1016/j.msard.2018.11.007. Epub 2018 Nov 10.
|
234 |
Associations between genetic variation in one-carbon metabolism and leukocyte DNA methylation in valproate-treated patients with epilepsy.Clin Nutr. 2018 Feb;37(1):308-312. doi: 10.1016/j.clnu.2017.01.004. Epub 2017 Jan 20.
|
235 |
Is cerebral involvement an occasional feature of muscle-specific kinase antibody-positive syndrome?.Eur J Neurol. 2007 Aug;14(8):e21-2. doi: 10.1111/j.1468-1331.2007.01873.x.
|
236 |
MicroRNA-421 suppresses the apoptosis and autophagy of hippocampal neurons in epilepsy mice model by inhibition of the TLR/MYD88 pathway.J Cell Physiol. 2018 Sep;233(9):7022-7034. doi: 10.1002/jcp.26498. Epub 2018 Mar 25.
|
237 |
Alteration of Gene Associated with Retinoid-interferon-induced Mortality-19-expressing Cell Types in the Mouse Hippocampus Following Pilocarpine-induced Status Epilepticus.Neuroscience. 2020 Jan 15;425:49-58. doi: 10.1016/j.neuroscience.2019.11.015. Epub 2019 Nov 29.
|
238 |
Therapeutic Targets for the Treatment of Comorbidities Associated with Epilepsy.Curr Mol Pharmacol. 2020;13(2):85-93. doi: 10.2174/1874467212666191203101606.
|
239 |
Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children.Epilepsia. 2011 Jan;52 Suppl 1(Suppl 1):13-20. doi: 10.1111/j.1528-1167.2010.02906.x.
|
240 |
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.Eur J Hum Genet. 2006 Sep;14(9):1009-17. doi: 10.1038/sj.ejhg.5201661. Epub 2006 Jun 14.
|
241 |
Distribution and expression of brain-derived neurotrophic factor, nerve growth factor, and neurotrophic factor-3 in refractory epilepsy-associated focal cortical dysplasia.Clin Neuropathol. 2017 Sep/Oct;36(5):233-239. doi: 10.5414/NP301026.
|
242 |
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21.
|
243 |
Mu- and delta-opioid receptor-mediated epileptoid responses in morphine-dependent and non-dependent rats.Electroencephalogr Clin Neurophysiol. 1985 Dec;61(6):569-72. doi: 10.1016/0013-4694(85)90976-9.
|
244 |
Dynorphin activation of kappa opioid receptor protects against epilepsy and seizure-induced brain injury via PI3K/Akt/Nrf2/HO-1 pathway.Cell Cycle. 2019 Jan;18(2):226-237. doi: 10.1080/15384101.2018.1562286. Epub 2018 Dec 30.
|
245 |
Roles of K(+) and cation channels in ORL-1 receptor-mediated depression of neuronal excitability and epileptic activities in the medial entorhinal cortex.Neuropharmacology. 2019 Jun;151:144-158. doi: 10.1016/j.neuropharm.2019.04.017. Epub 2019 Apr 15.
|
246 |
P2X2 and P2X4 receptor expression is regulated by a GABA(A) receptor-mediated mechanism in the gerbil hippocampus.Brain Res Mol Brain Res. 2003 Aug 19;116(1-2):168-75. doi: 10.1016/s0169-328x(03)00260-2.
|
247 |
The interaction between P2X7Rs and T-type calcium ion channels in penicillin-induced epileptiform activity.Neuropharmacology. 2019 May 1;149:1-12. doi: 10.1016/j.neuropharm.2019.01.027. Epub 2019 Jan 26.
|
248 |
Microglial P2Y12 Receptor Regulates Seizure-Induced Neurogenesis and Immature Neuronal Projections.J Neurosci. 2019 Nov 20;39(47):9453-9464. doi: 10.1523/JNEUROSCI.0487-19.2019. Epub 2019 Oct 9.
|
249 |
mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.Neuropsychopharmacology. 2018 May;43(6):1457-1465. doi: 10.1038/npp.2017.295. Epub 2017 Dec 5.
|
250 |
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.Am J Med Genet A. 2017 Jul;173(7):1936-1942. doi: 10.1002/ajmg.a.38217. Epub 2017 Apr 25.
|
251 |
Nuclear phospholipase C isoenzyme imbalance leads to pathologies in brain, hematologic, neuromuscular, and fertility disorders.J Lipid Res. 2019 Feb;60(2):312-317. doi: 10.1194/jlr.R089763. Epub 2018 Oct 4.
|
252 |
The direct and indirect costs of epilepsy in Poland estimates for 2014-2016 years.Expert Rev Pharmacoecon Outcomes Res. 2019 Jun;19(3):353-362. doi: 10.1080/14737167.2019.1533817. Epub 2018 Oct 24.
|
253 |
ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.Sci Rep. 2018 Apr 10;8(1):5722. doi: 10.1038/s41598-018-24013-x.
|
254 |
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25.
|
255 |
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.J Alzheimers Dis. 2013;37(4):653-9. doi: 10.3233/JAD-130746.
|
256 |
Quantitative Proteomic Analysis To Identify Differentially Expressed Proteins in Myocardium of Epilepsy Using iTRAQ Coupled with Nano-LC-MS/MS.J Proteome Res. 2018 Jan 5;17(1):305-314. doi: 10.1021/acs.jproteome.7b00579. Epub 2017 Nov 8.
|
257 |
Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy.Epilepsia. 2007 Apr;48(4):674-83. doi: 10.1111/j.1528-1167.2007.00926.x.
|
258 |
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16.
|
259 |
The antiepileptogenic effect of low-frequency stimulation on perforant path kindling involves changes in regulators of G-protein signaling in rat.J Neurol Sci. 2017 Apr 15;375:450-459. doi: 10.1016/j.jns.2017.02.047. Epub 2017 Feb 22.
|
260 |
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.
|
261 |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.
|
262 |
Increased Serum S100B Levels in Patients With Epilepsy: A Systematic Review and Meta-Analysis Study.Front Neurosci. 2019 May 16;13:456. doi: 10.3389/fnins.2019.00456. eCollection 2019.
|
263 |
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.Ann Hum Genet. 2020 Mar;84(2):161-168. doi: 10.1111/ahg.12359. Epub 2019 Nov 7.
|
264 |
Suppression of microRNA-141 suppressed p53 to protect against neural apoptosis in epilepsy by SIRT1 expression.J Cell Biochem. 2019 Jun;120(6):9409-9420. doi: 10.1002/jcb.28216. Epub 2018 Dec 12.
|
265 |
Bumepamine, a brain-permeant benzylamine derivative of bumetanide, does not inhibit NKCC1 but is more potent to enhance phenobarbital's anti-seizure efficacy.Neuropharmacology. 2018 Dec;143:186-204. doi: 10.1016/j.neuropharm.2018.09.025. Epub 2018 Sep 21.
|
266 |
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar.
|
267 |
Brain microstructural abnormalities correlate with KCC2 downregulation in refractory epilepsy.Neuroreport. 2019 Apr 10;30(6):409-414. doi: 10.1097/WNR.0000000000001216.
|
268 |
Mutations affecting GABAergic signaling in seizures and epilepsy. Pflugers Arch. 2010 Jul;460(2):505-23.
|
269 |
Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy.Brain Dev. 2018 Oct;40(9):827-829. doi: 10.1016/j.braindev.2018.05.020. Epub 2018 Jun 9.
|
270 |
Altered expression of vesicular monoamine transporter 2 in epileptic patients and experimental rats.Synapse. 2013 Jul;67(7):415-26. doi: 10.1002/syn.21663. Epub 2013 Apr 18.
|
271 |
Decreased vesicular acetylcholine transporter related to memory deficits in epilepsy: A [(18) F] VAT positron emission tomography brain imaging study.Epilepsia. 2018 Sep;59(9):1655-1666. doi: 10.1111/epi.14533. Epub 2018 Aug 20.
|
272 |
Expression and functions of glutamate and aminobutyric acid transporters in ischemic models.Mol Med Rep. 2018 Jun;17(6):8196-8202. doi: 10.3892/mmr.2018.8888. Epub 2018 Apr 16.
|
273 |
Photosensitive epilepsy and photosensitivity of patients with possible epilepsy in Chinese Han race: A prospective multicenter study.J Clin Neurosci. 2019 Nov;69:15-20. doi: 10.1016/j.jocn.2019.08.086. Epub 2019 Sep 13.
|
274 |
Losartan suppresses the kainate-induced changes of angiotensin AT(1) receptor expression in a model of comorbid hypertension and epilepsy.Life Sci. 2018 Jan 15;193:40-46. doi: 10.1016/j.lfs.2017.12.006. Epub 2017 Dec 6.
|
275 |
Highly selective SGLT2 inhibitor dapagliflozin reduces seizure activity in pentylenetetrazol-induced murine model of epilepsy.BMC Neurol. 2018 Jun 7;18(1):81. doi: 10.1186/s12883-018-1086-4.
|
276 |
HDAC4 gene silencing alleviates epilepsy by inhibition of GABA in a rat model.Neuropsychiatr Dis Treat. 2019 Feb 4;15:405-416. doi: 10.2147/NDT.S181669. eCollection 2019.
|
277 |
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.Neuropharmacology. 2019 Dec 15;161:107572. doi: 10.1016/j.neuropharm.2019.03.015. Epub 2019 Mar 15.
|
278 |
High expression of cystine-glutamate antiporter xCT (SLC7A11) is an independent biomarker for epileptic seizures at diagnosis in glioma.J Neurooncol. 2018 May;138(1):49-53. doi: 10.1007/s11060-018-2785-9. Epub 2018 Feb 5.
|
279 |
KB-R7943 reduces 4-aminopyridine-induced epileptiform activity in adult rats after neuronal damage induced by neonatal monosodium glutamate treatment.J Biomed Sci. 2017 May 9;24(1):27. doi: 10.1186/s12929-017-0335-y.
|
280 |
Emerging roles of Na?H?exchangers in epilepsy and developmental brain disorders.Prog Neurobiol. 2016 Mar-May;138-140:19-35. doi: 10.1016/j.pneurobio.2016.02.002. Epub 2016 Mar 8.
|
281 |
ABCC2 rs2273697 is associated with valproic acid concentrations in patients with epilepsy on valproic acid monotherapy.Pharmazie. 2018 May 1;73(5):279-282. doi: 10.1691/ph.2018.7344.
|
282 |
Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy.PLoS One. 2011;6(10):e26268. doi: 10.1371/journal.pone.0026268. Epub 2011 Oct 14.
|
283 |
Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation.Clin Neurol Neurosurg. 2019 Jun;181:64-66. doi: 10.1016/j.clineuro.2019.03.020. Epub 2019 Mar 28.
|
284 |
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.Sci Rep. 2017 Jun 6;7(1):2887. doi: 10.1038/s41598-017-02792-z.
|
285 |
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019.
|
286 |
Up-regulated BAFF and BAFF receptor expression in patients with intractable temporal lobe epilepsy and a pilocarpine-induced epilepsy rat model.Seizure. 2017 May;48:79-88. doi: 10.1016/j.seizure.2017.03.016. Epub 2017 Apr 8.
|
287 |
Management of lamotrigine overdose using hemodialysis.Am J Emerg Med. 2019 Aug;37(8):1603.e1-1603.e2. doi: 10.1016/j.ajem.2019.05.026. Epub 2019 May 15.
|
288 |
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.
|
289 |
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.
|
290 |
Up-Regulation of Trem2 Inhibits Hippocampal Neuronal Apoptosis and Alleviates Oxidative Stress in Epilepsy via the PI3K/Akt Pathway in Mice.Neurosci Bull. 2019 Jun;35(3):471-485. doi: 10.1007/s12264-018-0324-5. Epub 2019 Jan 25.
|
291 |
Long-term antiepileptic effects of chronic intake of CNK-602A, a thyrotropin-releasing hormone analogue, on spontaneously epileptic rats.Epilepsia. 1996 Apr;37(4):328-31. doi: 10.1111/j.1528-1157.1996.tb00567.x.
|
292 |
Contribution of Zinc-Dependent Delayed Calcium Influx via TRPC5 in Oxidative Neuronal Death and its Prevention by Novel TRPC Antagonist.Mol Neurobiol. 2019 Apr;56(4):2822-2835. doi: 10.1007/s12035-018-1258-7. Epub 2018 Jul 31.
|
293 |
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. Eur J Hum Genet. 2019 Oct;27(10):1611-1618. doi: 10.1038/s41431-019-0462-x. Epub 2019 Jul 5.
|
294 |
Increased risk of post-stroke epilepsy in Chinese patients with a TRPM6 polymorphism.Neurol Res. 2019 Apr;41(4):378-383. doi: 10.1080/01616412.2019.1568755. Epub 2019 Feb 9.
|
295 |
Suppressive Effects of Cooling Compounds Icilin on Penicillin G-Induced Epileptiform Discharges in Anesthetized Rats.Front Pharmacol. 2019 Jun 13;10:652. doi: 10.3389/fphar.2019.00652. eCollection 2019.
|
296 |
Hashimoto's Encephalopathy and Seizure Disorders.Front Neurol. 2019 May 8;10:440. doi: 10.3389/fneur.2019.00440. eCollection 2019.
|
297 |
Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients.Cell Mol Neurobiol. 2009 Dec;29(8):1223-31. doi: 10.1007/s10571-009-9418-y.
|
298 |
The diagnostic value of serum UCHL-1 and S100-B levels in differentiate epileptic seizures from psychogenic attacks.Brain Res. 2019 Feb 1;1704:11-15. doi: 10.1016/j.brainres.2018.09.028. Epub 2018 Sep 22.
|
299 |
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.Res Dev Disabil. 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002.
|
300 |
Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics.J Neurosci Res. 2007 Nov 1;85(14):3160-70. doi: 10.1002/jnr.21384.
|
301 |
Target-specific alterations in the VIP inhibitory drive to hippocampal GABAergic cells after status epilepticus.Exp Neurol. 2017 Jun;292:102-112. doi: 10.1016/j.expneurol.2017.03.007. Epub 2017 Mar 15.
|
302 |
Increased expression of WNK3 in dispersed granule cells in hippocampal sclerosis of mesial temporal lobe epilepsy patients.Epilepsy Res. 2018 Nov;147:58-61. doi: 10.1016/j.eplepsyres.2018.09.006. Epub 2018 Sep 17.
|
303 |
Cognition and quality of life in patients with poststroke epilepsy: A case-control study.Epilepsy Behav. 2020 Mar;104(Pt B):106444. doi: 10.1016/j.yebeh.2019.106444. Epub 2019 Aug 30.
|
304 |
Regulation of ADAM10 by MicroRNA-23a Contributes to Epileptogenesis in Pilocarpine-Induced Status Epilepticus Mice.Front Cell Neurosci. 2019 Apr 30;13:180. doi: 10.3389/fncel.2019.00180. eCollection 2019.
|
305 |
Role of Adenosine Kinase Inhibitor in Adenosine Augmentation Therapy for Epilepsy: A Potential Novel Drug for Epilepsy.Curr Drug Targets. 2020;21(3):252-257. doi: 10.2174/1389450119666191014104347.
|
306 |
Nitrobenzylthioinosine mimics adenosine to attenuate the epileptiform discharge of hippocampal neurons from epileptic rats.Oncotarget. 2017 May 30;8(22):35573-35582. doi: 10.18632/oncotarget.16012.
|
307 |
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.J Neurochem. 2017 Mar;140(6):919-940. doi: 10.1111/jnc.13950.
|
308 |
Expression analysis of beta-secretase 1 (BACE1) and its naturally occurring antisense (BACE1-AS) in blood of epileptic patients.Neurol Sci. 2018 Sep;39(9):1565-1569. doi: 10.1007/s10072-018-3458-3. Epub 2018 Jun 2.
|
309 |
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.Hum Mol Genet. 2017 Aug 1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.
|
310 |
Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.Epilepsia. 2017 Aug;58(8):e111-e115. doi: 10.1111/epi.13811. Epub 2017 May 28.
|
311 |
Correlation of MCT1 and ABCC2 gene polymorphisms with valproic acid resistance in patients with epilepsy on valproic acid monotherapy.Drug Metab Pharmacokinet. 2019 Jun;34(3):165-171. doi: 10.1016/j.dmpk.2018.01.006. Epub 2018 Mar 16.
|
312 |
Geniposide attenuates epilepsy symptoms in a mouse model through the PI3K/Akt/GSK-3 signaling pathway.Exp Ther Med. 2018 Jan;15(1):1136-1142. doi: 10.3892/etm.2017.5512. Epub 2017 Nov 14.
|
313 |
A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis.Neurosci Lett. 2018 Feb 14;666:1-4. doi: 10.1016/j.neulet.2017.12.027. Epub 2017 Dec 12.
|
314 |
Antioxidant polymorphisms do not influence the risk of epilepsy or its drug resistance after neonatal hypoxic-ischemic brain injury.Seizure. 2017 Mar;46:38-42. doi: 10.1016/j.seizure.2017.01.005. Epub 2017 Feb 3.
|
315 |
Hsp90 inhibitors prevent GLT-1 degradation but have no beneficial efficacy on absence epilepsy.J Asian Nat Prod Res. 2019 Sep;21(9):905-915. doi: 10.1080/10286020.2018.1530989. Epub 2018 Nov 17.
|
316 |
Methodological standards for invitro models of epilepsy and epileptic seizures. A TASK1-WG4 report of the AES/ILAE Translational Task Force of the ILAE.Epilepsia. 2017 Nov;58 Suppl 4(Suppl 4):40-52. doi: 10.1111/epi.13901.
|
317 |
Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.Eur J Med Genet. 2020 Jan;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001. Epub 2019 Feb 14.
|
318 |
Kininogen Level in the Cerebrospinal Fluid May Be a Potential Biomarker for Predicting Epileptogenesis.Front Neurol. 2019 Jan 31;10:37. doi: 10.3389/fneur.2019.00037. eCollection 2019.
|
319 |
The C-terminal flanking peptide of neuropeptide Y (NPY) is not essential for seizure-suppressant actions of prepro-NPY overexpression in male rats.J Neurosci Res. 2019 Mar;97(3):362-372. doi: 10.1002/jnr.24350. Epub 2018 Oct 27.
|
320 |
Disease Modification by Combinatorial Single Vector Gene Therapy: A Preclinical Translational Study in Epilepsy.Mol Ther Methods Clin Dev. 2019 Sep 18;15:179-193. doi: 10.1016/j.omtm.2019.09.004. eCollection 2019 Dec 13.
|
321 |
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24.
|
322 |
Inhibition of human microsomal PGE2 synthase-1 reduces seizure-induced increases of P-glycoprotein expression and activity at the blood-brain barrier.FASEB J. 2019 Dec;33(12):13966-13981. doi: 10.1096/fj.201901460RR. Epub 2019 Oct 22.
|
323 |
Repulsive guidance molecule a suppresses seizures and mossy fiber sprouting via the FAKp120RasGAPRas signaling pathway.Mol Med Rep. 2019 Apr;19(4):3255-3262. doi: 10.3892/mmr.2019.9951. Epub 2019 Feb 14.
|
324 |
Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.Eur J Hum Genet. 2017 Feb;25(2):216-221. doi: 10.1038/ejhg.2016.145. Epub 2016 Dec 14.
|
325 |
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.Ann Neurol. 2019 Jun;85(6):921-926. doi: 10.1002/ana.25477. Epub 2019 Apr 26.
|
326 |
Effects of Comedication and Genetic Factors on the Population Pharmacokinetics of Lamotrigine: A Prospective Analysis in Chinese Patients With Epilepsy.Front Pharmacol. 2019 Jul 25;10:832. doi: 10.3389/fphar.2019.00832. eCollection 2019.
|
327 |
Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function.Neuropharmacology. 2019 Dec 15;161:107644. doi: 10.1016/j.neuropharm.2019.05.021. Epub 2019 May 18.
|
328 |
Glomerular Filtration Rate Is a Major Predictor of Clearance of Oxcarbazepine Active Metabolite in Adult Chinese Epileptic Patients: A Population Pharmacokinetic Analysis.Ther Drug Monit. 2019 Oct;41(5):665-673. doi: 10.1097/FTD.0000000000000644.
|
329 |
TRPM2 ion channel is involved in the aggravation of cognitive impairment and down regulation of epilepsy threshold in pentylenetetrazole-induced kindling mice.Brain Res Bull. 2020 Feb;155:48-60. doi: 10.1016/j.brainresbull.2019.11.018. Epub 2019 Nov 30.
|
330 |
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23.
|
331 |
The role of UCH-L1, MMP-9, and GFAP as peripheral markers of different susceptibility to seizure development in a preclinical model of epilepsy.J Neuroimmunol. 2019 Jul 15;332:57-63. doi: 10.1016/j.jneuroim.2019.03.018. Epub 2019 Mar 29.
|
332 |
Therapeutic effects of cannabinoids in animal models of seizures, epilepsy, epileptogenesis, and epilepsy-related neuroprotection.Epilepsy Behav. 2017 May;70(Pt B):319-327. doi: 10.1016/j.yebeh.2016.11.006. Epub 2017 Feb 9.
|
333 |
Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. EMBO J. 1995 Mar 15;14(6):1084-90. doi: 10.1002/j.1460-2075.1995.tb07091.x.
|
334 |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.
|
335 |
Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.Am J Physiol Cell Physiol. 2009 Sep;297(3):C526-36. doi: 10.1152/ajpcell.00572.2008. Epub 2009 Jul 15.
|
336 |
Population pharmacokinetics of valproic acid in epileptic children: Effects of clinical and genetic factors.Eur J Pharm Sci. 2018 Sep 15;122:170-178. doi: 10.1016/j.ejps.2018.06.033. Epub 2018 Jul 4.
|
337 |
Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.Gene. 2013 Jan 15;513(1):71-4. doi: 10.1016/j.gene.2012.10.076. Epub 2012 Nov 12.
|
338 |
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.
|
339 |
ERG3 potassium channel-mediated suppression of neuronal intrinsic excitability and prevention of seizure generation in mice.J Physiol. 2018 Oct;596(19):4729-4752. doi: 10.1113/JP275970. Epub 2018 Sep 7.
|
340 |
A potassium leak channel silences hyperactive neurons and ameliorates status epilepticus.Epilepsia. 2014 Feb;55(2):203-13. doi: 10.1111/epi.12472. Epub 2013 Dec 2.
|
341 |
Astrocytes and Glutamine Synthetase in Epileptogenesis.J Neurosci Res. 2019 Nov;97(11):1345-1362. doi: 10.1002/jnr.24267. Epub 2018 Jul 18.
|
342 |
Developmental lineage of cell types in cortical dysplasia with balloon cells.Brain. 2007 Sep;130(Pt 9):2267-76. doi: 10.1093/brain/awm175.
|
343 |
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.Eur J Med Genet. 2015 Nov;58(11):624-8. doi: 10.1016/j.ejmg.2015.10.005. Epub 2015 Oct 19.
|
344 |
Brain microbial populations in HIV/AIDS: -proteobacteria predominate independent of host immune status.PLoS One. 2013;8(1):e54673. doi: 10.1371/journal.pone.0054673. Epub 2013 Jan 23.
|
345 |
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998.
|
346 |
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.J Inherit Metab Dis. 2019 May;42(3):494-500. doi: 10.1002/jimd.12081. Epub 2019 Apr 8.
|
347 |
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.
|
348 |
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.Am J Med Genet A. 2017 Apr;173(4):1119-1123. doi: 10.1002/ajmg.a.38112.
|
349 |
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am J Hum Genet. 2017 May 4;100(5):824-830.
|
350 |
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Amino Acids. 2015 Dec;47(12):2647-58.
|
351 |
Demyelination contributes to depression comorbidity in a rat model of chronic epilepsy via dysregulation of Olig2/LINGO-1 and disturbance of calcium homeostasis.Exp Neurol. 2019 Nov;321:113034. doi: 10.1016/j.expneurol.2019.113034. Epub 2019 Aug 12.
|
352 |
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.Brain Dev. 2015 Feb;37(2):223-9. doi: 10.1016/j.braindev.2014.04.012. Epub 2014 May 29.
|
353 |
Optogenetic activation of VGLUT2-expressing excitatory neurons blocks epileptic seizure-like activity in the mouse entorhinal cortex.Sci Rep. 2017 Feb 23;7:43230. doi: 10.1038/srep43230.
|
354 |
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.Epilepsia. 2010 Dec;51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30.
|
355 |
Effects of UGT1A4 genetic polymorphisms on serum lamotrigine concentrations in Chinese children with epilepsy.Drug Metab Pharmacokinet. 2015 Jun;30(3):209-13. doi: 10.1016/j.dmpk.2014.12.007. Epub 2015 Jan 2.
|
356 |
Effects of UGT1A6 and GABRA1 on Standardized Valproic Acid Plasma Concentrations and Treatment Effect in Children With Epilepsy in China.Ther Drug Monit. 2016 Dec;38(6):738-743. doi: 10.1097/FTD.0000000000000337.
|
357 |
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.Front Mol Neurosci. 2018 Jun 15;11:208. doi: 10.3389/fnmol.2018.00208. eCollection 2018.
|
358 |
Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 -24C>T polymorphism in young and adult patients with epilepsy.Pharmacogenet Genomics. 2009 May;19(5):353-62. doi: 10.1097/fpc.0b013e328329940b.
|
359 |
Characterization of the 5alpha-reductase-3alpha-hydroxysteroid dehydrogenase complex in the human brain.J Clin Endocrinol Metab. 2001 Mar;86(3):1324-31. doi: 10.1210/jcem.86.3.7325.
|
360 |
Association between EPHX1 polymorphisms and carbamazepine metabolism in epilepsy: a meta-analysis.Int J Clin Pharm. 2019 Dec;41(6):1414-1428. doi: 10.1007/s11096-019-00919-y. Epub 2019 Oct 24.
|
361 |
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2.
|
362 |
Association of Nicotinamide-N-Methyltransferase Gene rs694539 Variant with Epilepsy.Mol Neurobiol. 2016 Aug;53(6):4197-4200. doi: 10.1007/s12035-015-9364-2. Epub 2015 Jul 28.
|
363 |
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: clinical and biochemical alterations associated with the C.347g>A (P.Arg116gln) mutation. Mol Genet Metab. 2017 Sep;122(1-2):135-142.
|
364 |
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.Psychiatr Genet. 2008 Feb;18(1):40-2. doi: 10.1097/YPG.0b013e3282f08a3d.
|
365 |
Epileptic seizures and oxidative stress in a mouse model over-expressing spermine oxidase.Amino Acids. 2020 Feb;52(2):129-139. doi: 10.1007/s00726-019-02749-8. Epub 2019 Jun 13.
|
366 |
Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?.Seizure. 2019 Dec;73:17-20. doi: 10.1016/j.seizure.2019.10.012. Epub 2019 Oct 16.
|
367 |
Influence of UDP-glucuronosyltransferase polymorphisms on valproic acid pharmacokinetics in Chinese epilepsy patients.Eur J Clin Pharmacol. 2012 Oct;68(10):1395-401. doi: 10.1007/s00228-012-1277-7. Epub 2012 Apr 5.
|
368 |
Effects of UGT1A9 genetic polymorphisms on monohydroxylated derivative of oxcarbazepine concentrations and oxcarbazepine monotherapeutic efficacy in Chinese patients with epilepsy.Eur J Clin Pharmacol. 2017 Mar;73(3):307-315. doi: 10.1007/s00228-016-2157-3. Epub 2016 Nov 29.
|
369 |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.
|
370 |
Effectiveness of a multicomponent self-management intervention for adults with epilepsy (ZMILE study): A randomized controlled trial.Epilepsy Behav. 2018 Mar;80:259-265. doi: 10.1016/j.yebeh.2018.01.019. Epub 2018 Feb 12.
|
371 |
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20.
|
372 |
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
|
373 |
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2509-21. doi: 10.1167/iovs.15-18680.
|
374 |
Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.Proc Natl Acad Sci U S A. 2018 Apr 10;115(15):E3559-E3568. doi: 10.1073/pnas.1717082115. Epub 2018 Mar 26.
|
375 |
A comprehensive functional and clinical analysis of ABCC2 and its impact on treatment response to carbamazepine. Pharmacogenomics J. 2014 Oct;14(5):481-7.
|
376 |
LGI Proteins and Epilepsy in Human and Animals.J Vet Intern Med. 2015 Jul-Aug;29(4):997-1005. doi: 10.1111/jvim.12610. Epub 2015 Jun 1.
|
377 |
The absence of NIPA2 enhances neural excitability through BK (big potassium) channels.CNS Neurosci Ther. 2019 Aug;25(8):865-875. doi: 10.1111/cns.13119. Epub 2019 Mar 20.
|
378 |
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.Am J Med Genet A. 2018 Dec;176(12):2808-2812. doi: 10.1002/ajmg.a.40503. Epub 2018 Aug 25.
|
379 |
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.
|
380 |
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.Glycobiology. 2020 Jan 28;30(2):95-104. doi: 10.1093/glycob/cwz079.
|
381 |
Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.Epileptic Disord. 2018 Oct 1;20(5):413-417. doi: 10.1684/epd.2018.0996.
|
382 |
Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E.Acta Paediatr. 2015 Jul;104(7):701-6. doi: 10.1111/apa.12983. Epub 2015 Mar 27.
|
383 |
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?.Cytogenet Genome Res. 2018;154(1):1-5. doi: 10.1159/000486945. Epub 2018 Feb 28.
|
384 |
Trio Haploinsufficiency Causes Neurodevelopmental Disease-Associated Deficits.Cell Rep. 2019 Mar 5;26(10):2805-2817.e9. doi: 10.1016/j.celrep.2019.02.022.
|
385 |
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22.
|
386 |
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.Biochem Biophys Res Commun. 1998 Jul 20;248(2):307-14. doi: 10.1006/bbrc.1998.8947.
|
387 |
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?.Mol Genet Genomic Med. 2019 Aug;7(8):e849. doi: 10.1002/mgg3.849. Epub 2019 Jul 9.
|
388 |
Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis.Gene. 2013 Sep 10;526(2):449-53. doi: 10.1016/j.gene.2013.05.067. Epub 2013 Jun 7.
|
389 |
Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome.Cereb Cortex. 2009 Jul;19(7):1515-20. doi: 10.1093/cercor/bhn159. Epub 2008 Sep 11.
|
390 |
Neurologic disorders associated with anti-glutamic acid decarboxylase antibodies: A comparison of anti-GAD antibody titers and time-dependent changes between neurologic disease and type I diabetes mellitus.J Neuroimmunol. 2018 Apr 15;317:84-89. doi: 10.1016/j.jneuroim.2018.01.007. Epub 2018 Jan 9.
|
391 |
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23.
|
392 |
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.Folia Neuropathol. 2013;51(4):347-54. doi: 10.5114/fn.2013.39726.
|
393 |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.
|
394 |
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17.
|
395 |
Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians.J Paediatr Child Health. 2018 Oct;54(10):1090-1095. doi: 10.1111/jpc.14150.
|
396 |
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.Neurogenetics. 2018 Jan;19(1):9-16. doi: 10.1007/s10048-017-0528-2. Epub 2017 Nov 13.
|
397 |
Genetically engineered bone marrow mesenchymal stem cells improve functional outcome in a rat model of epilepsy.Brain Res. 2013 Sep 26;1532:1-13. doi: 10.1016/j.brainres.2013.07.020. Epub 2013 Aug 6.
|
398 |
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Am J Med Genet A. 2017 Dec;173(12):3127-3131. doi: 10.1002/ajmg.a.38496. Epub 2017 Oct 19.
|
399 |
LETM1 is required for mitochondrial homeostasis and cellular viability (Review).Mol Med Rep. 2019 May;19(5):3367-3375. doi: 10.3892/mmr.2019.10041. Epub 2019 Mar 15.
|
400 |
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.
|
401 |
Targeted hippocampal GABA neuron ablation by Stable Substance P-saporin causes hippocampal sclerosis and chronic epilepsy in rats.Epilepsia. 2019 May;60(5):e52-e57. doi: 10.1111/epi.14723. Epub 2019 Apr 8.
|
402 |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.
|
403 |
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019.
|
404 |
Epilepsy stigma in Saudi Arabia: The roles of mind-body dualism, supernatural beliefs, and religiosity.Epilepsy Behav. 2019 Jun;95:175-180. doi: 10.1016/j.yebeh.2019.04.022. Epub 2019 May 6.
|
405 |
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.Neuropediatrics. 2011 Feb;42(1):13-7. doi: 10.1055/s-0031-1275342. Epub 2011 Apr 15.
|
406 |
Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems.Neuropediatrics. 2008 Dec;39(6):357-8. doi: 10.1055/s-0029-1202834. Epub 2009 Jun 30.
|
407 |
ADAR RNA editing in human disease; more to it than meets the I.Hum Genet. 2017 Sep;136(9):1265-1278. doi: 10.1007/s00439-017-1837-0. Epub 2017 Sep 14.
|
408 |
ADGRV1 is implicated in myoclonic epilepsy.Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20.
|
409 |
Accelerated long-term forgetting and behavioural difficulties in children with epilepsy.Cortex. 2019 Jan;110:92-100. doi: 10.1016/j.cortex.2018.03.021. Epub 2018 Mar 30.
|
410 |
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Hum Genet. 2019 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.
|
411 |
ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity.Neuroscience. 2019 Jun 15;409:204-221. doi: 10.1016/j.neuroscience.2019.03.009. Epub 2019 Mar 12.
|
412 |
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10.
|
413 |
Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex.Neurology. 2000 May 23;54(10):1976-84. doi: 10.1212/wnl.54.10.1976.
|
414 |
Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.Hum Genet. 2009 Nov;126(5):677-83. doi: 10.1007/s00439-009-0718-6. Epub 2009 Jul 14.
|
415 |
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.Epilepsia. 2004 Oct;45(10):1258-60. doi: 10.1111/j.0013-9580.2004.19504.x.
|
416 |
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16.
|
417 |
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22.
|
418 |
Autoimmune Epilepsy.Neurotherapeutics. 2019 Jul;16(3):685-702. doi: 10.1007/s13311-019-00750-3.
|
419 |
Down-regulation of APLP1 mRNA expression in hippocampus of pilocarpine-induced epileptic rats.Neurosci Bull. 2009 Jun;25(3):109-14. doi: 10.1007/s12264-009-1229-0.
|
420 |
Assessment of the neuropsychiatric comorbidities in Chinese children with epilepsy using the MINI-KID tool.Epilepsy Res. 2018 Feb;140:8-14. doi: 10.1016/j.eplepsyres.2017.11.011. Epub 2017 Nov 24.
|
421 |
Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA(A) receptors. Neurobiol Dis. 2020 Feb;134:104632. doi: 10.1016/j.nbd.2019.104632. Epub 2019 Oct 31.
|
422 |
Overexpression of N-WASP in the brain of human epilepsy.Brain Res. 2008 Oct 3;1233:168-75. doi: 10.1016/j.brainres.2008.07.101. Epub 2008 Aug 5.
|
423 |
Why we urgently need improved epilepsy therapies for adult patients.Neuropharmacology. 2020 Jun 15;170:107855. doi: 10.1016/j.neuropharm.2019.107855. Epub 2019 Nov 18.
|
424 |
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.
|
425 |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.
|
426 |
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.Brain Dev. 2019 Mar;41(3):285-291. doi: 10.1016/j.braindev.2018.10.008. Epub 2018 Nov 2.
|
427 |
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3.
|
428 |
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.
|
429 |
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.Eur J Med Genet. 2020 Apr;63(4):103799. doi: 10.1016/j.ejmg.2019.103799. Epub 2019 Oct 23.
|
430 |
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962.
|
431 |
Branch atheromatous disease has a stronger association with late-onset epileptic seizures than lacunar infarction in Japanese patients.J Int Med Res. 2020 Jan;48(1):300060519831572. doi: 10.1177/0300060519831572. Epub 2019 Mar 6.
|
432 |
Association of ABCB1,CYP3A4,EPHX1,FAS,SCN1A,MICA, andBAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy.Epilepsia. 2014 Aug;55(8):1301-6. doi: 10.1111/epi.12655. Epub 2014 May 23.
|
433 |
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14.
|
434 |
Pathogenesis of Lennox-Gastaut syndrome: considerations and hypotheses.Epileptic Disord. 2001 Dec;3(4):183-96.
|
435 |
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.
|
436 |
Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?.Epilepsy Res. 2006 Nov;72(1):75-9. doi: 10.1016/j.eplepsyres.2006.07.009. Epub 2006 Aug 22.
|
437 |
Nestin-expressing cell types in the temporal lobe and hippocampus: Morphology, differentiation, and proliferative capacity.Glia. 2018 Jan;66(1):62-77. doi: 10.1002/glia.23211. Epub 2017 Sep 19.
|
438 |
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.
|
439 |
CACHD1 is an 2-Like Protein That Modulates Ca(V)3 Voltage-Gated Calcium Channel Activity.J Neurosci. 2018 Oct 24;38(43):9186-9201. doi: 10.1523/JNEUROSCI.3572-15.2018. Epub 2018 Sep 4.
|
440 |
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6.
|
441 |
Depression and Temporal Lobe Epilepsy: Expression Pattern of Calbindin Immunoreactivity in Hippocampal Dentate Gyrus of Patients Who Underwent Epilepsy Surgery with and without Comorbid Depression.Behav Neurol. 2019 May 2;2019:7396793. doi: 10.1155/2019/7396793. eCollection 2019.
|
442 |
A polymorphism in CALHM1 is associated with temporal lobe epilepsy.Epilepsy Behav. 2011 Apr;20(4):681-5. doi: 10.1016/j.yebeh.2011.02.007. Epub 2011 Mar 24.
|
443 |
Polymorphisms in CACNA1E and Camk2d are associated with seizure susceptibility of Sprague-Dawley rats.Epilepsy Res. 2010 Sep;91(1):28-34. doi: 10.1016/j.eplepsyres.2010.06.006. Epub 2010 Jul 16.
|
444 |
MiR-125a-5p Alleviates Dysfunction and Inflammation of Pentylenetetrazol- induced Epilepsy Through Targeting Calmodulin-dependent Protein Kinase IV (CAMK4).Curr Neurovasc Res. 2019;16(4):365-372. doi: 10.2174/1567202616666190906125444.
|
445 |
The potential role of CAMSAP1L1 in symptomatic epilepsy.Neurosci Lett. 2013 Nov 27;556:146-51. doi: 10.1016/j.neulet.2013.10.020. Epub 2013 Oct 20.
|
446 |
Earlyonset epilepsy and microcephalycapillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.Mol Med Rep. 2019 Dec;20(6):5145-5151. doi: 10.3892/mmr.2019.10757. Epub 2019 Oct 17.
|
447 |
Genetic epidemiology of epilepsy: a twin study.Neurol India. 2005 Mar;53(1):93-8. doi: 10.4103/0028-3886.15070.
|
448 |
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?.Gene. 2013 Apr 25;519(1):202-7. doi: 10.1016/j.gene.2012.09.045. Epub 2012 Sep 19.
|
449 |
Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.Neurosci Lett. 2018 Sep 25;684:115-120. doi: 10.1016/j.neulet.2018.07.014. Epub 2018 Jul 9.
|
450 |
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.Epilepsia. 2018 Aug;59(8):1557-1566. doi: 10.1111/epi.14516. Epub 2018 Jul 16.
|
451 |
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.Neuropediatrics. 2013 Oct;44(5):268-71. doi: 10.1055/s-0033-1333874. Epub 2013 Feb 22.
|
452 |
Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.Curr Pain Headache Rep. 2010 Aug;14(4):276-83. doi: 10.1007/s11916-010-0121-y.
|
453 |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.
|
454 |
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.Annu Rev Physiol. 2005;67:779-807. doi: 10.1146/annurev.physiol.67.032003.153245.
|
455 |
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.
|
456 |
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.
|
457 |
Increased expression of calponin-3 in epileptic patients and experimental rats.Exp Neurol. 2012 Jan;233(1):430-7. doi: 10.1016/j.expneurol.2011.11.014. Epub 2011 Nov 15.
|
458 |
Schizophrenia and epilepsy as a result of maternally inherited CNTN6 copy number variant.Schizophr Res. 2018 Dec;202:111-112. doi: 10.1016/j.schres.2018.06.062. Epub 2018 Jul 6.
|
459 |
CNTNAP4 Impacts Epilepsy Through GABAA Receptors Regulation: Evidence From Temporal Lobe Epilepsy Patients and Mouse Models.Cereb Cortex. 2018 Oct 1;28(10):3491-3504. doi: 10.1093/cercor/bhx215.
|
460 |
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.Pediatr Nephrol. 2009 Sep;24(9):1673-81. doi: 10.1007/s00467-009-1184-z. Epub 2009 May 15.
|
461 |
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?.Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23.
|
462 |
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.Eur J Med Genet. 2017 Mar;60(3):172-177. doi: 10.1016/j.ejmg.2016.12.009. Epub 2016 Dec 24.
|
463 |
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
|
464 |
Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy.Epilepsy Res. 2017 May;132:64-69. doi: 10.1016/j.eplepsyres.2017.02.015. Epub 2017 Feb 27.
|
465 |
Self-Management education for adults with poorly controlled epILEpsy [SMILE (UK)]: a randomised controlled trial.Health Technol Assess. 2018 Apr;22(21):1-142. doi: 10.3310/hta22210.
|
466 |
Cannabinoid Receptor Interacting Protein 1a (CRIP1a): Function and Structure.Molecules. 2019 Oct 12;24(20):3672. doi: 10.3390/molecules24203672.
|
467 |
Germline de novo variants in CSNK2B in Chinese patients with epilepsy.Sci Rep. 2019 Nov 29;9(1):17909. doi: 10.1038/s41598-019-53484-9.
|
468 |
Pore-Forming Proteins as Mediators of Novel Epigenetic Mechanism of Epilepsy.Front Neurol. 2017 Jan 18;8:3. doi: 10.3389/fneur.2017.00003. eCollection 2017.
|
469 |
-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.
|
470 |
Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.Hum Mol Genet. 2012 Oct 1;21(19):4270-85. doi: 10.1093/hmg/dds261. Epub 2012 Jul 3.
|
471 |
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30.
|
472 |
Mitochondrial DNA variant m.15218A?G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.BMC Med Genet. 2013 Jul 19;14:73. doi: 10.1186/1471-2350-14-73.
|
473 |
Death-associated protein kinase expression in human temporal lobe epilepsy.Ann Neurol. 2004 Apr;55(4):485-94. doi: 10.1002/ana.20001.
|
474 |
Doublecortin-expressing cell types in temporal lobe epilepsy.Acta Neuropathol Commun. 2018 Jul 13;6(1):60. doi: 10.1186/s40478-018-0566-5.
|
475 |
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083. Epub 2015 Jun 5.
|
476 |
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature.J Child Neurol. 2016 Mar;31(3):338-44. doi: 10.1177/0883073815595078. Epub 2015 Jul 17.
|
477 |
Underestimation of sudden deaths among patients with seizures and epilepsy.Neurology. 2017 Aug 29;89(9):886-892. doi: 10.1212/WNL.0000000000004292. Epub 2017 Aug 2.
|
478 |
Expression, Purification, and Properties of a Human Arachidonoyl-Specific Isoform of Diacylglycerol Kinase.Biochemistry. 2017 Mar 7;56(9):1337-1347. doi: 10.1021/acs.biochem.6b01193. Epub 2017 Feb 24.
|
479 |
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.Mol Genet Metab. 2012 Jul;106(3):345-50. doi: 10.1016/j.ymgme.2012.04.026. Epub 2012 May 10.
|
480 |
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.
|
481 |
Altered expression of Dscam in temporal lobe tissue from human and experimental animals.Synapse. 2011 Oct;65(10):975-82. doi: 10.1002/syn.20924. Epub 2011 Mar 28.
|
482 |
Activation of nicotinamide adenine dinucleotide phosphate oxidase is the primary trigger of epileptic seizures in rodent models.Ann Neurol. 2019 Jun;85(6):907-920. doi: 10.1002/ana.25474. Epub 2019 Apr 12.
|
483 |
IL-1-31/IL1-RA genetic markers association with idiopathic generalized epilepsy and treatment response in a cohort of Egyptian population.Int J Neurosci. 2020 Apr;130(4):348-354. doi: 10.1080/00207454.2019.1688809. Epub 2019 Nov 7.
|
484 |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.
|
485 |
The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.Clin EEG Neurosci. 2018 May;49(3):192-196. doi: 10.1177/1550059417705280. Epub 2017 Apr 23.
|
486 |
Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.Brain Dev. 2020 Jan;42(1):77-82. doi: 10.1016/j.braindev.2019.08.001. Epub 2019 Aug 30.
|
487 |
Ephrinb3 modulates hippocampal neurogenesis and the reelin signaling pathway in a pilocarpineinduced model of epilepsy.Int J Mol Med. 2018 Jun;41(6):3457-3467. doi: 10.3892/ijmm.2018.3543. Epub 2018 Mar 7.
|
488 |
Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression.Proc Natl Acad Sci U S A. 2005 Aug 16;102(33):11894-9. doi: 10.1073/pnas.0501434102. Epub 2005 Aug 9.
|
489 |
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
|
490 |
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23.
|
491 |
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501.
|
492 |
Kainic Acid Induces mTORC1-Dependent Expression of Elmo1 in Hippocampal Neurons.Mol Neurobiol. 2017 May;54(4):2562-2578. doi: 10.1007/s12035-016-9821-6. Epub 2016 Mar 19.
|
493 |
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.
|
494 |
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy. Mol Genet Genomic Med. 2018 Mar;6(2):282-287. doi: 10.1002/mgg3.352. Epub 2017 Dec 22.
|
495 |
Malin and laforin are essential components of a protein complex that protects cells from thermal stress.J Cell Sci. 2011 Jul 1;124(Pt 13):2277-86. doi: 10.1242/jcs.082800. Epub 2011 Jun 7.
|
496 |
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.
|
497 |
A rat model for LGI1-related epilepsies.Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15.
|
498 |
An animal model of genetic predisposition to develop acquired epileptogenesis: The FAST and SLOW rats.Epilepsia. 2019 Oct;60(10):2023-2036. doi: 10.1111/epi.16329. Epub 2019 Aug 29.
|
499 |
Valproic acid, a histone deacetylase inhibitor, enhances sensitivity to doxorubicin in anaplastic thyroid cancer cells.J Endocrinol. 2006 Nov;191(2):465-72. doi: 10.1677/joe.1.06970.
|
500 |
Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development.Exp Neurol. 2016 Mar;277:86-95. doi: 10.1016/j.expneurol.2015.12.011. Epub 2015 Dec 19.
|
501 |
FOXD3 inhibits SCN2A gene transcription in intractable epilepsy cell models.Exp Neurol. 2018 Apr;302:14-21. doi: 10.1016/j.expneurol.2017.12.012. Epub 2017 Dec 28.
|
502 |
FOXO4 expression is associated with the occurrence and outcome of seizures: An RNA-sequencing analysis of low-grade gliomas.Seizure. 2017 Nov;52:41-45. doi: 10.1016/j.seizure.2017.09.012. Epub 2017 Sep 21.
|
503 |
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.Mol Cell Biol. 2016 Jul 29;36(16):2132-40. doi: 10.1128/MCB.00066-16. Print 2016 Aug 15.
|
504 |
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25.
|
505 |
Decreased expression of Gab2 in patients with temporal lobe epilepsy and pilocarpine-induced rat model.Synapse. 2014 Apr;68(4):168-77. doi: 10.1002/syn.21725. Epub 2013 Dec 20.
|
506 |
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29.
|
507 |
Cell injury and receptor expression in the epileptic human amygdala.Neurobiol Dis. 2019 Apr;124:416-427. doi: 10.1016/j.nbd.2018.12.017. Epub 2018 Dec 24.
|
508 |
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250.
|
509 |
Sip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex.Neurosci Lett. 2017 May 22;650:180-186. doi: 10.1016/j.neulet.2017.04.048. Epub 2017 Apr 25.
|
510 |
HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy.Biosci Rep. 2019 Sep 6;39(9):BSR20191247. doi: 10.1042/BSR20191247. Print 2019 Sep 30.
|
511 |
Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.Neurobiol Dis. 2010 Jul;39(1):53-60. doi: 10.1016/j.nbd.2010.02.005. Epub 2010 Feb 24.
|
512 |
Inhibition of miR-203 Reduces Spontaneous Recurrent Seizures in Mice.Mol Neurobiol. 2017 Jul;54(5):3300-3308. doi: 10.1007/s12035-016-9901-7. Epub 2016 May 10.
|
513 |
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.Eur J Endocrinol. 2009 Nov;161(5):731-5. doi: 10.1530/EJE-09-0615. Epub 2009 Aug 18.
|
514 |
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid.Epileptic Disord. 2017 Mar 1;19(1):94-98. doi: 10.1684/epd.2017.0895.
|
515 |
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub 2019 Aug 22.
|
516 |
Correlations between the level of antibody against peptide of glutamate receptor NR3B subunit in the CSF and cognitive comorbidities of patients with epilepsy.Eur Rev Med Pharmacol Sci. 2019 Jan;23(1):328-337. doi: 10.26355/eurrev_201901_16780.
|
517 |
The transmembrane domain of the p75 neurotrophin receptor stimulates phosphorylation of the TrkB tyrosine kinase receptor.J Biol Chem. 2017 Oct 6;292(40):16594-16604. doi: 10.1074/jbc.M117.788729. Epub 2017 Aug 17.
|
518 |
Mutations in HECW2 are associated with intellectual disability and epilepsy.J Med Genet. 2016 Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22.
|
519 |
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.
|
520 |
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29.
|
521 |
Neuronal PAS domain protein 4 (Npas4) controls neuronal homeostasis in pentylenetetrazole-induced epilepsy through the induction of Homer1a.J Neurochem. 2018 Apr;145(1):19-33. doi: 10.1111/jnc.14274. Epub 2017 Dec 28.
|
522 |
Overexpressed HspB6 Underlines a Novel Inhibitory Role in Kainic Acid-Induced Epileptic Seizure in Rats by Activating the cAMP-PKA Pathway.Cell Mol Neurobiol. 2019 Jan;39(1):111-122. doi: 10.1007/s10571-018-0637-y. Epub 2018 Dec 3.
|
523 |
HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy.Synapse. 2007 Sep;61(9):741-7. doi: 10.1002/syn.20417.
|
524 |
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet. 2011 Aug 12;89(2):265-76. doi: 10.1016/j.ajhg.2011.07.006.
|
525 |
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019.
|
526 |
IRF2BPL gene mutation: Expanding on neurologic phenotypes.Am J Med Genet A. 2019 Nov;179(11):2263-2271. doi: 10.1002/ajmg.a.61328. Epub 2019 Aug 20.
|
527 |
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25.
|
528 |
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.PLoS One. 2015 Nov 6;10(11):e0141782. doi: 10.1371/journal.pone.0141782. eCollection 2015.
|
529 |
Reduced expression of calsenilin/DREAM/KChIP3 in the brains of kainic acid-induced seizure and epilepsy patients.Neurosci Lett. 2003 Apr 3;340(1):33-6. doi: 10.1016/s0304-3940(03)00067-3.
|
530 |
miRNA-187-3p-Mediated Regulation of the KCNK10/TREK-2 Potassium Channel in a Rat Epilepsy Model.ACS Chem Neurosci. 2016 Nov 16;7(11):1585-1594. doi: 10.1021/acschemneuro.6b00222. Epub 2016 Sep 22.
|
531 |
Identification and characterization of outcome measures reported in animal models of epilepsy: Protocol for a systematic review of the literature-A TASK2 report of the AES/ILAE Translational Task Force of the ILAE.Epilepsia. 2017 Nov;58 Suppl 4:68-77. doi: 10.1111/epi.13908.
|
532 |
Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5443-8. doi: 10.1073/pnas.1017539108. Epub 2011 Mar 14.
|
533 |
Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.Clin Chim Acta. 2019 Jun;493:87-91. doi: 10.1016/j.cca.2019.02.028. Epub 2019 Feb 28.
|
534 |
PRRT2 mutation in Japanese children with benign infantile epilepsy.Brain Dev. 2013 Aug;35(7):641-6. doi: 10.1016/j.braindev.2012.09.015. Epub 2012 Nov 3.
|
535 |
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22.
|
536 |
Expression of laminin beta1 in hippocampi of patients with intractable epilepsy.Neurosci Lett. 2008 Oct 10;443(3):160-4. doi: 10.1016/j.neulet.2008.07.080. Epub 2008 Aug 5.
|
537 |
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.
|
538 |
Increased expression of L-amino acid transporters in balloon cells of tuberous sclerosis.Childs Nerv Syst. 2011 Jan;27(1):63-70. doi: 10.1007/s00381-010-1239-2. Epub 2010 Aug 3.
|
539 |
Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.Cell Mol Life Sci. 2020 Jan;77(2):267-274. doi: 10.1007/s00018-019-03269-0. Epub 2019 Aug 20.
|
540 |
Positive association between benign familial infantile convulsions and LGI4.Brain Dev. 2010 Aug;32(7):538-43. doi: 10.1016/j.braindev.2009.09.006. Epub 2009 Oct 7.
|
541 |
Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode.J Theor Biol. 2017 May 7;420:259-266. doi: 10.1016/j.jtbi.2016.09.005. Epub 2016 Oct 5.
|
542 |
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13.
|
543 |
Effect of synaptic adhesion-like molecule 3 on epileptic seizures: Evidence from animal models.Epilepsy Behav. 2017 Apr;69:18-23. doi: 10.1016/j.yebeh.2016.11.023. Epub 2017 Mar 14.
|
544 |
Assessment of psychiatric and behavioral adverse effects of antiepileptic drugs monotherapy: Could they have a neuroendocrine correlation in persons with epilepsy?.Epilepsy Behav. 2019 Nov;100(Pt A):106439. doi: 10.1016/j.yebeh.2019.07.040. Epub 2019 Sep 28.
|
545 |
Design, synthesis and biological evaluation of novel ureido benzenesulfonamides incorporating 1,3,5-triazine moieties as potent carbonic anhydrase IX inhibitors.Bioorg Chem. 2019 Feb;82:117-122. doi: 10.1016/j.bioorg.2018.10.005. Epub 2018 Oct 5.
|
546 |
Effects of JIP3 on epileptic seizures: Evidence from temporal lobe epilepsy patients, kainic-induced acute seizures and pentylenetetrazole-induced kindled seizures.Neuroscience. 2015 Aug 6;300:314-24. doi: 10.1016/j.neuroscience.2015.05.008. Epub 2015 May 19.
|
547 |
FAME 3: a novel form of progressive myoclonus and epilepsy.Neurology. 2007 Apr 24;68(17):1382-9. doi: 10.1212/01.wnl.0000260063.46425.7e.
|
548 |
A Pragmatic Test for Detecting Association between a Dichotomous Trait and the Genotypes of Affected Families, Controls and Independent Cases.Front Genet. 2017 May 9;8:49. doi: 10.3389/fgene.2017.00049. eCollection 2017.
|
549 |
Decreased expression of thyroid receptor-associated protein 220 in temporal lobe tissue of patients with refractory epilepsy.Biochem Biophys Res Commun. 2006 Oct 6;348(4):1389-97. doi: 10.1016/j.bbrc.2006.08.010. Epub 2006 Aug 10.
|
550 |
MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.Seizure. 2019 Apr;67:86-90. doi: 10.1016/j.seizure.2019.03.015. Epub 2019 Mar 22.
|
551 |
Expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model.Synapse. 2011 Nov;65(11):1213-21. doi: 10.1002/syn.20961. Epub 2011 Jun 17.
|
552 |
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28.
|
553 |
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.J Invest Dermatol. 2015 Mar;135(3):734-741. doi: 10.1038/jid.2014.440. Epub 2014 Oct 7.
|
554 |
MTHFR, MTR, and MTHFD1 gene polymorphisms compared to homocysteine and asymmetric dimethylarginine concentrations and their metabolites in epileptic patients treated with antiepileptic drugs.Seizure. 2011 Sep;20(7):533-40. doi: 10.1016/j.seizure.2011.04.001. Epub 2011 May 4.
|
555 |
Stigma, emotional aspects, and psychological symptoms in individuals with epilepsy.Epilepsy Behav. 2019 Apr;93:56-59. doi: 10.1016/j.yebeh.2019.01.040. Epub 2019 Mar 1.
|
556 |
Association of Alpha-Soluble NSF Attachment Protein with Epileptic Seizure.J Mol Neurosci. 2015 Nov;57(3):417-25. doi: 10.1007/s12031-015-0596-4. Epub 2015 Jul 9.
|
557 |
NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin Genet. 2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28.
|
558 |
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.
|
559 |
Fold prediction and comparative modeling of Bdm1: a probable alpha/beta hydrolase associated with hot water epilepsy.J Mol Model. 2003 Feb;9(1):3-8. doi: 10.1007/s00894-002-0102-0. Epub 2003 Jan 17.
|
560 |
Mice with conditional NeuroD1 knockout display reduced aberrant hippocampal neurogenesis but no change in epileptic seizures.Exp Neurol. 2017 Jul;293:190-198. doi: 10.1016/j.expneurol.2017.04.005. Epub 2017 Apr 18.
|
561 |
Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.J Child Neurol. 2008 Feb;23(2):240-2. doi: 10.1177/0883073807309245.
|
562 |
Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume.Epilepsy Behav. 2018 Mar;80:266-271. doi: 10.1016/j.yebeh.2018.01.018.
|
563 |
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22.
|
564 |
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17.
|
565 |
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ER).Hum Mol Genet. 2017 Jun 1;26(11):2042-2052. doi: 10.1093/hmg/ddx094.
|
566 |
Neuropeptide FF receptors as novel targets for limbic seizure attenuation.Neuropharmacology. 2015 Aug;95:415-23. doi: 10.1016/j.neuropharm.2015.04.030. Epub 2015 May 9.
|
567 |
mTOR signaling pathway genes in focal epilepsies.Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7.
|
568 |
Modeling a Neurexin-3 Human Mutation in Mouse Neurons Identifies a Novel Role in the Regulation of Transsynaptic Signaling and Neurotransmitter Release at Excitatory Synapses.J Neurosci. 2019 Nov 13;39(46):9065-9082. doi: 10.1523/JNEUROSCI.1261-19.2019. Epub 2019 Oct 2.
|
569 |
ATPase N-ethylmaleimide-sensitive Fusion Protein: A Novel Key Player for Causing Spontaneous Network Excitation in Human Temporal Lobe Epilepsy.Neuroscience. 2018 Feb 10;371:371-383. doi: 10.1016/j.neuroscience.2017.12.013. Epub 2017 Dec 17.
|
570 |
6q22.1 microdeletion and susceptibility to pediatric epilepsy.Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.
|
571 |
Human and rodent temporal lobe epilepsy is characterized by changes in O-GlcNAc homeostasis that can be reversed to dampen epileptiform activity.Neurobiol Dis. 2019 Apr;124:531-543. doi: 10.1016/j.nbd.2019.01.001. Epub 2019 Jan 6.
|
572 |
The potential role of cannabinoids in epilepsy treatment.Expert Rev Neurother. 2017 Nov;17(11):1069-1079. doi: 10.1080/14737175.2017.1373019. Epub 2017 Sep 4.
|
573 |
5-HT3 Receptors: A Potential Therapeutic Target for Epilepsy.Curr Neuropharmacol. 2018;16(1):29-36. doi: 10.2174/1570159X15666170508170412.
|
574 |
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12.
|
575 |
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.
|
576 |
Pannexin-1 channels in epilepsy.Neurosci Lett. 2019 Mar 16;695:71-75. doi: 10.1016/j.neulet.2017.09.004. Epub 2017 Sep 5.
|
577 |
Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia.Oncotarget. 2017 Jan 24;8(4):6883-6895. doi: 10.18632/oncotarget.14317.
|
578 |
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12.
|
579 |
Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.Epilepsy Behav. 2016 Jul;60:75-80. doi: 10.1016/j.yebeh.2016.04.009. Epub 2016 May 12.
|
580 |
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
|
581 |
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.
|
582 |
New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation.PLoS One. 2018 Jun 1;13(6):e0198266. doi: 10.1371/journal.pone.0198266. eCollection 2018.
|
583 |
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8.
|
584 |
Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy.Hippocampus. 2009 Nov;19(11):1051-4. doi: 10.1002/hipo.20633.
|
585 |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.
|
586 |
Cytogenetic damage by melphalan and hyperthermia in patients with an initial epileptic attack.Mutat Res. 1992 Aug;280(2):143-8. doi: 10.1016/0165-1218(92)90010-w.
|
587 |
TDAG51 in the anterior temporal neocortex of patients with intractable epilepsy.Neurosci Lett. 2007 Sep 20;425(1):53-8. doi: 10.1016/j.neulet.2007.08.016. Epub 2007 Aug 15.
|
588 |
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11.
|
589 |
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.Neurology. 2014 Sep 9;83(11):1018-21. doi: 10.1212/WNL.0000000000000781. Epub 2014 Aug 1.
|
590 |
PICK1 facilitates lasting reduction in GluA2 concentration in the hippocampus during chronic epilepsy.Epilepsy Res. 2017 Nov;137:25-32. doi: 10.1016/j.eplepsyres.2017.08.012. Epub 2017 Aug 31.
|
591 |
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. 2018 Jun;39(6):822-826. doi: 10.1002/humu.23420. Epub 2018 Mar 30.
|
592 |
Targeted therapy for inherited GPI deficiency.N Engl J Med. 2007 Apr 19;356(16):1641-7. doi: 10.1056/NEJMoa063369.
|
593 |
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9.
|
594 |
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30.
|
595 |
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2019 Oct;21(10):2216-2223. doi: 10.1038/s41436-019-0512-3. Epub 2019 Apr 12.
|
596 |
Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.Pediatr Neurol. 2018 Aug;85:67-70. doi: 10.1016/j.pediatrneurol.2018.05.010. Epub 2018 Jun 5.
|
597 |
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8.
|
598 |
The P(II)-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent Interactions.Front Mol Biosci. 2018 Nov 13;5:91. doi: 10.3389/fmolb.2018.00091. eCollection 2018.
|
599 |
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
|
600 |
POGZ-related epilepsy: Case report and review of the literature. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28.
|
601 |
Specific OCT1 and ABCG2 polymorphisms are associated with Lamotrigine concentrations in Chinese patients with epilepsy. Epilepsy Res. 2016 Nov;127:186-190.
|
602 |
Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.BMC Neurol. 2018 Sep 20;18(1):150. doi: 10.1186/s12883-018-1157-6.
|
603 |
Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.Sci Rep. 2019 Feb 27;9(1):2912. doi: 10.1038/s41598-019-39642-z.
|
604 |
C2-lacking isoform of Nedd4-2 regulates excitatory synaptic strength through GluA1 ubiquitination-independent mechanisms.J Neurochem. 2019 Nov;151(3):289-300. doi: 10.1111/jnc.14840. Epub 2019 Aug 25.
|
605 |
Valproic acid, a molecular lead to multiple regulatory pathways.Folia Biol (Praha). 2007;53(2):37-49.
|
606 |
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.Hum Mol Genet. 2014 Jan 1;23(1):247-58. doi: 10.1093/hmg/ddt403. Epub 2013 Aug 19.
|
607 |
Pumilio2-deficient mice show a predisposition for epilepsy.Dis Model Mech. 2017 Nov 1;10(11):1333-1342. doi: 10.1242/dmm.029678. Epub 2017 Oct 18.
|
608 |
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.Nat Commun. 2015 Mar 18;6:6504. doi: 10.1038/ncomms7504.
|
609 |
Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.Mov Disord. 2019 Oct;34(10):1571-1576. doi: 10.1002/mds.27832. Epub 2019 Sep 4.
|
610 |
RASgrf1, a Potential Methylatic Mediator of Anti-epileptogenesis?.Neurochem Res. 2018 Oct;43(10):2000-2007. doi: 10.1007/s11064-018-2621-9. Epub 2018 Sep 21.
|
611 |
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.
|
612 |
HMGB1 mediates microglia activation via the TLR4/NF-B pathway in coriaria lactone induced epilepsy.Mol Med Rep. 2018 Apr;17(4):5125-5131. doi: 10.3892/mmr.2018.8485. Epub 2018 Jan 25.
|
613 |
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr.
|
614 |
Video polysomnographic findings in non-rapid eye movement parasomnia.J Sleep Res. 2019 Apr;28(2):e12772. doi: 10.1111/jsr.12772. Epub 2018 Oct 8.
|
615 |
REST/NRSF transcription factor is overexpressed in hippocampus of patients with drug-resistant mesial temporal lobe epilepsy.Epilepsy Behav. 2019 May;94:118-123. doi: 10.1016/j.yebeh.2019.02.012. Epub 2019 Mar 21.
|
616 |
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.
|
617 |
Ectopic expression of Miro 1 ameliorates seizures and inhibits hippocampal neurodegeneration in a mouse model of pilocarpine epilepsy.Biochem Cell Biol. 2018 Aug;96(4):468-474. doi: 10.1139/bcb-2017-0102. Epub 2018 Jan 24.
|
618 |
Tau Related Pathways as a Connecting Link between Epilepsy and Alzheimer's Disease.ACS Chem Neurosci. 2019 Oct 16;10(10):4199-4212. doi: 10.1021/acschemneuro.9b00460. Epub 2019 Sep 30.
|
619 |
RNaseT2 knockout rats exhibit hippocampal neuropathology and deficits in memory.Dis Model Mech. 2018 Jun 27;11(6):dmm032631. doi: 10.1242/dmm.032631.
|
620 |
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21.
|
621 |
Neural activity in the periaqueductal gray and other specific subcortical structures is enhanced when a selective serotonin reuptake inhibitor selectively prevents seizure-induced sudden death in the DBA/1 mouse model of sudden unexpected death in epilepsy.Epilepsia. 2019 Jun;60(6):1221-1233. doi: 10.1111/epi.14759. Epub 2019 May 6.
|
622 |
Unnatural verticilide enantiomer inhibits type 2 ryanodine receptor-mediated calcium leak and is antiarrhythmic.Proc Natl Acad Sci U S A. 2019 Mar 12;116(11):4810-4815. doi: 10.1073/pnas.1816685116. Epub 2019 Feb 21.
|
623 |
Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30.
|
624 |
Identification of novel gene and pathway targets for human epilepsy treatment.Biol Res. 2016 Jan 7;49:3. doi: 10.1186/s40659-015-0060-5.
|
625 |
Induction of sodium channel Na(x) (SCN7A) expression in rat and human hippocampus in temporal lobe epilepsy.Epilepsia. 2010 Sep;51(9):1791-800. doi: 10.1111/j.1528-1167.2010.02678.x. Epub 2010 Aug 5.
|
626 |
Elevated Expression of the Delta-Subunit of Epithelial Sodium Channel in Temporal Lobe Epilepsy Patients and Rat Model.J Mol Neurosci. 2015 Dec;57(4):510-8. doi: 10.1007/s12031-015-0630-6. Epub 2015 Aug 1.
|
627 |
Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats.CNS Neurosci Ther. 2020 Jan;26(1):101-116. doi: 10.1111/cns.13181. Epub 2019 Jun 9.
|
628 |
De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.Neurosci Bull. 2019 Dec;35(6):1045-1057. doi: 10.1007/s12264-019-00400-w. Epub 2019 Jun 13.
|
629 |
Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene.J Neurosci Res. 2007 Jan;85(1):166-72. doi: 10.1002/jnr.21103.
|
630 |
Endophilin A1 mediates seizure activity via regulation of AMPARs in a PTZ-kindled epileptic mouse model.Exp Neurol. 2018 Jun;304:41-57. doi: 10.1016/j.expneurol.2018.02.014. Epub 2018 Feb 24.
|
631 |
Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI.Neuropediatrics. 2008 Jun;39(3):139-45. doi: 10.1055/s-0028-1085462. Epub 2008 Nov 7.
|
632 |
A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesis.Seizure. 2008 Apr;17(3):269-75. doi: 10.1016/j.seizure.2007.08.003. Epub 2007 Sep 27.
|
633 |
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2.
|
634 |
Resting-state functional connectivity changes due to acute and short-term valproic acid administration in the baboon model of GGE.Neuroimage Clin. 2017 Jul 24;16:132-141. doi: 10.1016/j.nicl.2017.07.013. eCollection 2017.
|
635 |
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25.
|
636 |
SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.J Cell Mol Med. 2018 Mar;22(3):1883-1893. doi: 10.1111/jcmm.13473. Epub 2018 Jan 24.
|
637 |
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.Gene. 2019 Jul 20;706:162-171. doi: 10.1016/j.gene.2019.05.007. Epub 2019 May 11.
|
638 |
Expression pattern of sorting Nexin 25 in temporal lobe epilepsy: a study on patients and pilocarpine-induced rats.Brain Res. 2013 May 6;1509:79-85. doi: 10.1016/j.brainres.2013.03.005. Epub 2013 Mar 18.
|
639 |
SorCS2 Controls Functional Expression of Amino Acid Transporter EAAT3 and Protects Neurons from Oxidative Stress and Epilepsy-Induced Pathology.Cell Rep. 2019 Mar 5;26(10):2792-2804.e6. doi: 10.1016/j.celrep.2019.02.027.
|
640 |
The extracellular matrix protein SC1/hevin localizes to excitatory synapses following status epilepticus in the rat lithium-pilocarpine seizure model.J Neurosci Res. 2008 Oct;86(13):2895-905. doi: 10.1002/jnr.21735.
|
641 |
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.Am J Med Genet A. 2003 Mar 1;117A(2):116-21. doi: 10.1002/ajmg.a.10141.
|
642 |
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.
|
643 |
Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.
|
644 |
Epilepsy Associates with Decreased HIF-1/STAT5b Signaling in Glioblastoma.Cancers (Basel). 2019 Jan 4;11(1):41. doi: 10.3390/cancers11010041.
|
645 |
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?.Gene. 2019 Feb 15;685:50-54. doi: 10.1016/j.gene.2018.10.067. Epub 2018 Oct 25.
|
646 |
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.Am J Med Genet A. 2014 Mar;164A(3):782-8. doi: 10.1002/ajmg.a.36345. Epub 2013 Dec 19.
|
647 |
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30.
|
648 |
Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy.Neurosci Lett. 2015 Mar 30;591:149-154. doi: 10.1016/j.neulet.2015.02.009. Epub 2015 Feb 7.
|
649 |
No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.Epilepsy Res. 2009 Jan;83(1):44-51. doi: 10.1016/j.eplepsyres.2008.09.003. Epub 2008 Oct 31.
|
650 |
SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.Int J Dev Neurosci. 2019 Nov;78:65-76. doi: 10.1016/j.ijdevneu.2019.08.003. Epub 2019 Aug 24.
|
651 |
Pilocarpine-Induced Status Epilepticus Is Associated with Changes in the Actin-Modulating Protein Synaptopodin and Alterations in Long-Term Potentiation in the Mouse Hippocampus.Neural Plast. 2017;2017:2652560. doi: 10.1155/2017/2652560. Epub 2017 Jan 5.
|
652 |
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
|
653 |
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11.
|
654 |
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.
|
655 |
Correlation between TSC1 gene polymorphism and epilepsy.Exp Ther Med. 2017 Dec;14(6):6238-6242. doi: 10.3892/etm.2017.5345. Epub 2017 Oct 19.
|
656 |
TIGAR suppresses seizures induced by kainic acid through inhibiting oxidative stress and neuronal apoptosis.Biochem Biophys Res Commun. 2019 Jul 30;515(3):436-441. doi: 10.1016/j.bbrc.2019.05.156. Epub 2019 May 31.
|
657 |
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.
|
658 |
Characterization of focal cortical dysplasia with balloon cells by layer-specific markers: Evidence for differential vulnerability of interneurons.Epilepsia. 2017 Apr;58(4):635-645. doi: 10.1111/epi.13690. Epub 2017 Feb 16.
|
659 |
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18.
|
660 |
TMEM25 modulates neuronal excitability and NMDA receptor subunit NR2B degradation.J Clin Invest. 2019 Sep 3;129(9):3864-3876. doi: 10.1172/JCI122599.
|
661 |
Association of TRAF1/C5 Locus Polymorphisms with Epilepsy and Clinical Traits in Mexican Patients with Neurocysticercosis.Infect Immun. 2019 Nov 18;87(12):e00347-19. doi: 10.1128/IAI.00347-19. Print 2019 Dec.
|
662 |
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.Hum Mol Genet. 1995 Apr;4(4):709-16. doi: 10.1093/hmg/4.4.709.
|
663 |
Inhibition of TRIB3 Protects Against Neurotoxic Injury Induced by Kainic Acid in Rats.Front Pharmacol. 2019 May 22;10:585. doi: 10.3389/fphar.2019.00585. eCollection 2019.
|
664 |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.Diabet Med. 2016 Sep;33(9):e21-5. doi: 10.1111/dme.13024.
|
665 |
Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3.Mol Psychiatry. 2006 Feb;11(2):134-42. doi: 10.1038/sj.mp.4001759.
|
666 |
Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.Nat Commun. 2018 Apr 18;9(1):1546. doi: 10.1038/s41467-018-03947-w.
|
667 |
ADAM23 is a common risk gene for canine idiopathic epilepsy.BMC Genet. 2017 Jan 31;18(1):8. doi: 10.1186/s12863-017-0478-6.
|
668 |
Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.
|
669 |
Corrigendum: A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy.Front Mol Neurosci. 2019 Apr 24;12:103. doi: 10.3389/fnmol.2019.00103. eCollection 2019.
|
670 |
The Functional Communication Classification System: extended reliability and concurrent validity for children with cerebral palsy aged 5 to 18 years.Dev Med Child Neurol. 2019 Jul;61(7):805-812. doi: 10.1111/dmcn.14135. Epub 2019 Jan 6.
|
671 |
CHD2-related epilepsy: novel mutations and new phenotypes.Dev Med Child Neurol. 2020 May;62(5):647-653. doi: 10.1111/dmcn.14367. Epub 2019 Nov 1.
|
672 |
Altered circadian rhythms and oscillation of clock genes and sirtuin 1 in a model of sudden unexpected death in epilepsy.Epilepsia. 2018 Aug;59(8):1527-1539. doi: 10.1111/epi.14513. Epub 2018 Jul 15.
|
673 |
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.Mol Genet Genomic Med. 2019 Oct;7(10):e00861. doi: 10.1002/mgg3.861. Epub 2019 Aug 15.
|
674 |
Randomized Placebo-Controlled Trial of Intravenous Immunoglobulin in Autoimmune LGI1/CASPR2 Epilepsy.Ann Neurol. 2020 Feb;87(2):313-323. doi: 10.1002/ana.25655. Epub 2019 Dec 14.
|
675 |
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16.
|
676 |
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?.Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.
|
677 |
Loss of fragile X protein FMRP impairs homeostatic synaptic downscaling through tumor suppressor p53 and ubiquitin E3 ligase Nedd4-2.Hum Mol Genet. 2018 Aug 15;27(16):2805-2816. doi: 10.1093/hmg/ddy189.
|
678 |
Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission.Front Mol Neurosci. 2017 Dec 8;10:402. doi: 10.3389/fnmol.2017.00402. eCollection 2017.
|
679 |
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.Pharmacogenet Genomics. 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000.
|
680 |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
|
681 |
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.Epilepsia. 2001 Sep;42(9):1103-11. doi: 10.1046/j.1528-1157.2001.08801.x.
|
682 |
Obstructive sleep apnea in refractory epilepsy: A pilot study investigating frequency, clinical features, and association with risk of sudden unexpected death in epilepsy.Epilepsia. 2018 Oct;59(10):1973-1981. doi: 10.1111/epi.14548. Epub 2018 Sep 24.
|
683 |
Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy.JAMA Pediatr. 2018 Apr 1;172(4):352-360. doi: 10.1001/jamapediatrics.2017.5211.
|
684 |
Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures.J Neurosci. 2019 Jun 26;39(26):5064-5079. doi: 10.1523/JNEUROSCI.3014-18.2019. Epub 2019 Apr 23.
|
685 |
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.Pediatr Neurol. 2018 Dec;89:26-30. doi: 10.1016/j.pediatrneurol.2018.07.014. Epub 2018 Aug 4.
|
686 |
Derivation of familial iPSC lines from three ASD patients carrying NRXN1(+/-) and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B).Stem Cell Res. 2019 Dec;41:101653. doi: 10.1016/j.scr.2019.101653. Epub 2019 Nov 13.
|
687 |
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.Epilepsy Behav. 2017 Apr;69:104-109. doi: 10.1016/j.yebeh.2017.01.022. Epub 2017 Feb 23.
|
688 |
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.Brain Dev. 2018 Aug;40(7):596-600. doi: 10.1016/j.braindev.2018.02.009. Epub 2018 Mar 2.
|
689 |
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26.
|
690 |
Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.Hum Genet. 2014 May;133(5):651-9. doi: 10.1007/s00439-013-1405-1. Epub 2013 Dec 13.
|
691 |
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3.
|
692 |
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission.Nat Commun. 2017 Mar 6;8:14536. doi: 10.1038/ncomms14536.
|
693 |
Cannabidiol reduces seizures and associated behavioral comorbidities in a range of animal seizure and epilepsy models.Epilepsia. 2019 Feb;60(2):303-314. doi: 10.1111/epi.14629. Epub 2018 Dec 26.
|
694 |
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11.
|
695 |
Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.Epilepsia. 2018 Jul;59(7):1372-1380. doi: 10.1111/epi.14438. Epub 2018 Jun 6.
|
696 |
Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.Brain Behav. 2016 Jun 14;6(7):e00490. doi: 10.1002/brb3.490. eCollection 2016 Jul.
|
697 |
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.
|
698 |
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.J Mol Neurosci. 2018 Oct;66(2):273-278. doi: 10.1007/s12031-018-1167-2. Epub 2018 Sep 5.
|
699 |
Disruption of the GluA2/GAPDH complex using TAT-GluA2NT1-3-2 peptide protects against AMPAR-mediated excitotoxicity after epilepsy.Neuroreport. 2018 Mar 21;29(5):432-439. doi: 10.1097/WNR.0000000000000996.
|
700 |
LAM study: Effects of lacosamide on behaviour and quality of life in patients with epilepsy.Neurologia (Engl Ed). 2019 Jan-Feb;34(1):1-6. doi: 10.1016/j.nrl.2016.10.007. Epub 2016 Dec 16.
|
|
|
|
|
|
|