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Article

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Epilepsy research - 1 Feb 2003

Cossette Patrick, Loukas Andrew, Lafrenière Ronald G, Rochefort Daniel, Harvey-Girard Eric, Ragsdale David S, Dunn Robert J, Rouleau Guy A

Abstract excerpt

Mutations in the alpha 1 subunit of the voltage-gated sodium channel (SCN1A) have been increasingly recognized as an important cause of familial epilepsy in humans. However, the functional consequences of these mutations remain largely unknown. We identified a mutation (D188V) in SCN1A segregating with generalized epilepsy with febrile seizures (GEFS) in a large kindred. Compared to wild-type sodium channels, in...

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Source

Identifiers

PMID: 12576172
DOI: 10.1016/s0920-1211(02)00259-0

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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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