Details of Disease

General Information of Disease (ID: DIS4LY5L)

• Disease Name: Focal epilepsy
• Synonyms: partial epilepsy; focal epilepsy; localisation-related epilepsy
• Definition: A seizure caused by a localized disorder.|The updated term for partial epilepsy is now focal epilepsy, according to the International League Against Epilepsy Nosology and Definitions Taskforce [PMID:35503725, PMID:28276062].
• Disease Hierarchy:
  DISBB28L: Epilepsy
  DIS4LY5L: Focal epilepsy
• Disease Identifiers:
  MONDO ID: MONDO_0005384
  MESH ID: D004828
  UMLS CUI: C0014547
  MedGen ID: 41836
  SNOMED CT ID: 230381009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Carbamazepine	DMZOLBI	Approved	Small molecular drug	[1]
Oxcarbazepine	DM5PU6O	Approved	Small molecular drug	[2]
Phenytoin	DMNOKBV	Approved	Small molecular drug	[3]
Primidone	DM0WX6I	Approved	Small molecular drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNR1	TT6OEDT	Limited	Biomarker	[5]
SCN1A	TTANOZH	Limited	Genetic Variation	[6]
CHRNA4	TT4H1MQ	moderate	Genetic Variation	[7]
FGFR3	TTST7KB	moderate	Genetic Variation	[8]
SCN3A	TTAXZ0K	moderate	Genetic Variation	[9]
CHRNB2	TT5KPZR	Strong	Biomarker	[10]
CLCN6	TTCJRDO	Strong	Genetic Variation	[11]
KCNT1	TTGJFK1	Strong	Genetic Variation	[12]
SCN2A	TTLJTUF	Strong	Genetic Variation	[13]
SLC33A1	TTL69WB	Strong	Genetic Variation	[14]

This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LGI2	OTFJ2ZSG	Disputed	Biomarker	[15]
MVP	OTJGHJRB	Disputed	Genetic Variation	[16]
SYN1	OTMNPWC1	Disputed	Genetic Variation	[17]
CNTNAP2	OT48T2ZP	moderate	Genetic Variation	[18]
CPA6	OT43RD23	moderate	Posttranslational Modification	[19]
ELP4	OTP5GZ9V	moderate	Biomarker	[20]
FAM20C	OTW5YZ7X	moderate	Biomarker	[21]
PRRT2	OTCJUBDO	moderate	Genetic Variation	[22]
ADCY9	OT1IZT5K	Strong	Genetic Variation	[23]
ARHGEF9	OTB1FLIW	Strong	Biomarker	[24]
BABAM2	OTOY7FNT	Strong	Biomarker	[25]
KCNAB1	OT25GJE9	Strong	Biomarker	[26]
LGI1	OTPS77HO	Strong	Genetic Variation	[27]
RBFOX1	OTFPKEL7	Strong	Genetic Variation	[28]
SCGB1D4	OTEM6CR0	Strong	Biomarker	[29]
TBC1D24	OTKZUSMD	Strong	Genetic Variation	[30]
TESC	OTI8C76M	Strong	Biomarker	[31]
DEPDC5	OTE70JLY	Definitive	Autosomal dominant	[32]
NPRL2	OTOB10MO	Definitive	Autosomal dominant	[32]
NPRL3	OTS4HE8E	Definitive	Autosomal dominant	[32]

References

• [1] Carbamazepine FDA Label
• [2] Oxcarbazepine FDA Label
• [3] Phenytoin FDA Label
• [4] Primidone FDA Label
• [5] Evidences of cannabinoids-induced modulation of paroxysmal events in an experimental model of partial epilepsy in the rat.Neurosci Lett. 2009 Sep 22;462(2):135-9. doi: 10.1016/j.neulet.2009.07.014. Epub 2009 Jul 10.
• [6] SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.Epileptic Disord. 2019 Apr 1;21(2):185-191. doi: 10.1684/epd.2019.1046.
• [7] A targeted resequencing gene panel for focal epilepsy.Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30.
• [8] Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?.Pediatr Neurol. 2014 Apr;50(4):427-30. doi: 10.1016/j.pediatrneurol.2014.01.004. Epub 2014 Jan 7.
• [9] Novel SCN3A variants associated with focal epilepsy in children.Neurobiol Dis. 2014 Feb;62:313-22. doi: 10.1016/j.nbd.2013.10.015. Epub 2013 Oct 21.
• [10] Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.
• [11] Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.PLoS One. 2015 Mar 20;10(3):e0118946. doi: 10.1371/journal.pone.0118946. eCollection 2015.
• [12] Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.Epilepsy Res. 2018 Mar;141:48-55. doi: 10.1016/j.eplepsyres.2018.02.003. Epub 2018 Feb 12.
• [13] Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina.Epilepsy Res. 2019 Dec;158:106221. doi: 10.1016/j.eplepsyres.2019.106221. Epub 2019 Oct 23.
• [14] Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.Nat Commun. 2018 Dec 10;9(1):5269. doi: 10.1038/s41467-018-07524-z.
• [15] LGI2 truncation causes a remitting focal epilepsy in dogs.PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28.
• [16] Absence of association between major vault protein (MVP) gene polymorphisms and drug resistance in Chinese Han patients with partial epilepsy.J Neurol Sci. 2015 Nov 15;358(1-2):362-6. doi: 10.1016/j.jns.2015.09.363. Epub 2015 Sep 25.
• [17] X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.Epilepsia. 2015 Jul;56(7):1098-108. doi: 10.1111/epi.13042. Epub 2015 Jun 19.
• [18] Cntnap2 Knockout Rats and Mice Exhibit Epileptiform Activity and Abnormal Sleep-Wake Physiology.Sleep. 2017 Jan 1;40(1). doi: 10.1093/sleep/zsw026.
• [19] Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures.Epilepsy Res. 2014 Jan;108(1):144-8. doi: 10.1016/j.eplepsyres.2013.10.007. Epub 2013 Oct 24.
• [20] Emerging genetic influences in benign epilepsy with centro-temporal spikes - BECTS.Epilepsy Res. 2012 Sep;101(3):197-201. doi: 10.1016/j.eplepsyres.2012.06.011. Epub 2012 Jul 19.
• [21] Early detection rate changes from a brain-responsive neurostimulation system predict efficacy of newly added antiseizure drugs.Epilepsia. 2020 Jan;61(1):138-148. doi: 10.1111/epi.16412. Epub 2019 Dec 17.
• [22] Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.Int J Neurosci. 2017 Jan;127(1):10-13. doi: 10.3109/00207454.2015.1136886. Epub 2016 Apr 6.
• [23] Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.Brain. 2010 Jul;133(Pt 7):2136-47. doi: 10.1093/brain/awq130. Epub 2010 Jun 3.
• [24] The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.J Neurol. 2017 Jul;264(7):1421-1425. doi: 10.1007/s00415-017-8539-3. Epub 2017 Jun 15.
• [25] Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.Neuropediatrics. 1993 Aug;24(4):208-10. doi: 10.1055/s-2008-1071541.
• [26] Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.Epilepsy Res. 2011 Mar;94(1-2):110-6. doi: 10.1016/j.eplepsyres.2011.01.010. Epub 2011 Feb 18.
• [27] LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma.Clin Neurol Neurosurg. 2018 Jul;170:27-33. doi: 10.1016/j.clineuro.2018.04.010. Epub 2018 Apr 14.
• [28] Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.
• [29] Interictal Slow and High-Frequency Oscillations: Is it an Epileptic Slow or Red Slow?.J Clin Neurophysiol. 2019 Mar;36(2):166-170. doi: 10.1097/WNP.0000000000000527.
• [30] Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.Epileptic Disord. 2016 Sep 1;18(3):324-8. doi: 10.1684/epd.2016.0849.
• [31] 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.
• [32] 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.