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A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

Epilepsia - 1 Dec 2012

Ogiwara Ikuo, Nakayama Tojo, Yamagata Tetsushi, Ohtani Hideyuki, Mazaki Emi, Tsuchiya Shigeru, Inoue Yushi, Yamakawa Kazuhiro

Abstract excerpt

Dravet syndrome is a severe form of epileptic encephalopathy characterized by early onset epileptic seizures followed by ataxia and cognitive decline. Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was...

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PMID: 23148524
DOI: 10.1111/epi.12040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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