Epilepsy, focal, SCN3A related

MedGen UID:: 910257
•Concept ID:: CN240377
•: Disease or Syndrome

Recent clinical studies

Etiology

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS
Epilepsy Res 2015 Jan;109:34-9. Epub 2014 Oct 28 doi: 10.1016/j.eplepsyres.2014.10.008. PMID: 25524840

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH
Neurosci Lett 2008 Mar 5;433(1):65-70. Epub 2008 Jan 11 doi: 10.1016/j.neulet.2007.12.064. PMID: 18242854 Free PMC Article

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Diagnosis

SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.

Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I
Epilepsia 2023 May;64(5):1318-1330. Epub 2022 Nov 14 doi: 10.1111/epi.17444. PMID: 36287100 Free PMC Article

De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity.

Johannesen KM, Gardella E, Ahring PK, Møller RS
Eur J Med Genet 2022 Oct;65(10):104577. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104577. PMID: 35918039

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Prognosis

SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS
Epilepsy Res 2015 Jan;109:34-9. Epub 2014 Oct 28 doi: 10.1016/j.eplepsyres.2014.10.008. PMID: 25524840

See all (2)