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Article

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

PloS one - 1 Jan 2012

Kwong Anna Ka-Yee, Fung Cheuk-Wing, Chan Siu-Yuen, Wong Virginia Chun-Nei

Abstract excerpt

BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations...

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Source

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Identifiers

PMID: 22848613
DOI: 10.1371/journal.pone.0041802
PMCID: PMC3405017

Genes

PCDH19
TSPYL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22848613-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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