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Article

A catalog of SCN1A variants.

Brain & development - 1 Feb 2009

Lossin Christoph

Abstract excerpt

Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet's syndrome (SMEI). Despite...

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Source

Identifiers

PMID: 18804930
DOI: 10.1016/j.braindev.2008.07.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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