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Article

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

The Journal of physiology - 1 Dec 2005

Rhodes Thomas H, Vanoye Carlos G, Ohmori Iori, Ogiwara Ikuo, Yamakawa Kazuhiro, George Alfred L

Abstract excerpt

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditions. Several missense SCN1A mutations have been identified in probands affected by the syndrome of intractable childhood...

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Identifiers

PMID: 16210358
DOI: 10.1113/jphysiol.2005.094326
PMCID: PMC1464244

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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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizuresSemantic proximity Read ↗

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