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Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

Epilepsy research - 1 Jun 2007

Osaka Hitoshi, Ogiwara Ikuo, Mazaki Emi, Okamura Nami, Yamashita Sumimasa, Iai Mizue, Yamada Michiko, Kurosawa Kenji, Iwamoto Hiroko, Yasui-Furukori Norio, Kaneko Sunao, Fujiwara Tateki, Inoue Yushi, Yamakawa Kazuhiro

Abstract excerpt

We investigated the roles of mutations in voltage-gated sodium channel alpha 1 subunit gene (SCN1A) in epilepsies and psychiatric disorders. The SCN1A gene was screened for mutations in three unrelated Japanese families with generalized epilepsy with febrile seizure plus (GEFS+), febrile seizure with myoclonic seizures, or intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC). In the...

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PMID: 17507202
DOI: 10.1016/j.eplepsyres.2007.03.018

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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