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Article

Dissecting the phenotypes of Dravet syndrome by gene deletion.

Brain : a journal of neurology - 1 Aug 2015

Rubinstein Moran, Han Sung, Tai Chao, Westenbroek Ruth E, Hunker Avery, Scheuer Todd, Catterall William A

Abstract excerpt

Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage-gated sodium channel Nav1.1 causes Dravet syndrome, an intractable childhood-onset epilepsy with hyperactivity, cognitive deficit, autistic-like behaviours, and premature death. Deletion of Nav1.1 channels selectively impairs...

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Identifiers

PMID: 26017580
DOI: 10.1093/brain/awv142
PMCID: PMC5022661

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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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