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Article

Phenotypes and genotypes in epilepsy with febrile seizures plus.

Epilepsy research - 1 Aug 2006

Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S

Abstract excerpt

In the last several years, mutations of sodium channel genes, SCN1A, SCN2A, and SCN1B, and GABA(A) receptor gene, GABRG2 were identified as causes of some febrile seizures related epilepsies. In 19 unrelated Japanese families whose probands had febrile seizures plus or epilepsy following febrile seizures plus, we identified 2 missense mutations of SCN1A to be responsible for the seizure phenotypes in two FS+...

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Source

Identifiers

PMID: 16884893
DOI: 10.1016/j.eplepsyres.2005.11.028

Genes

EFS
GABRG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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