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Article

Confirming an expanded spectrum of SCN2A mutations: a case series.

Epileptic disorders : international epilepsy journal with videotape - 1 Mar 2014

Matalon Dena, Goldberg Ethan, Medne Livija, Marsh Eric D

Abstract excerpt

Mutations in sodium channel genes are highly associated with epilepsy. Mutation of SCN1A, the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in SCN2A have been identified in patients with benign familial neonatal-infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24659627
DOI: 10.1684/epd.2014.0641

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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