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Article

A Nonsense Mutation of the Sodium Channel Gene<i>SCN2A</i>in a Patient with Intractable Epilepsy and Mental Decline

17 Mar 2004

Abstract excerpt

Mutations, exclusively missense, of voltage-gated sodium channel alpha subunit type 1 (SCN1A) and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized epilepsy with febrile seizures plus. Nonsense and frameshift mutations of SCN1A, by contrast, were identified in intractable epilepsy: severe myoclonic epilepsy in infancy (SMEI). Here we describe a first nonsense mutation of SCN2A...

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Identifiers

PMID: 15028761
DOI: 10.1523/jneurosci.3089-03.2004

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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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