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Article

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Sept 2005

Bergren Sarah K, Chen Shu, Galecki Andrzej, Kearney Jennifer A

Abstract excerpt

Mutations in the voltage-gated sodium channels SCN 1 A and SCN 2 A are responsible for several types of human epilepsy. Variable expressivity among family members is a common feature of these inherited epilepsies, suggesting that genetic modifiers may influence the clinical manifestation of epilepsy. The transgenic mouse model Scn 2 a(Q 54) has an epilepsy phenotype as a result of a mutation in Scn 2 a that slows...

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Source

Identifiers

PMID: 16245025
DOI: 10.1007/s00335-005-0049-4

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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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