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Article

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

Molecular and cellular neurosciences - 1 Jun 2007

Xu Ruwei, Thomas Evan A, Jenkins Misty, Gazina Elena V, Chiu Cindy, Heron Sarah E, Mulley John C, Scheffer Ingrid E, Berkovic Samuel F, Petrou Steven

Abstract excerpt

Seizure susceptibility is high in human infants compared to adults, presumably because of developmentally regulated changes in neural excitability. Benign familial neonatal-infantile seizures (BFNIS), characterized by both early onset and remission, are caused by mutations in the gene encoding a...

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Identifiers

PMID: 17467289
DOI: 10.1016/j.mcn.2007.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17467289-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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