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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.
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PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.Neuropsychobiology. 2016;73(3):160-8. doi: 10.1159/000445295. Epub 2016 Apr 20.
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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.
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Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.Neuroscience. 2019 Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4.
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Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress.Cells. 2019 Jan 18;8(1):70. doi: 10.3390/cells8010070.
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ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.
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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7.
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A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3.Cytogenet Cell Genet. 1996;74(1-2):140-5. doi: 10.1159/000134402.
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The natural history and treatment of epilepsy in a murine model of tuberous sclerosis.Epilepsia. 2007 Aug;48(8):1470-6. doi: 10.1111/j.1528-1167.2007.01110.x. Epub 2007 May 1.
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