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Article

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Biochemical and biophysical research communications - 20 May 2011

Fendri-Kriaa Nourhène, Boujilbene Salma, Kammoun Fatma, Mkaouar-Rebai Emna, Ben Mahmoud Afif, Hsairi Ines, Rebai Ahmed, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is one of the most severe forms of childhood epilepsy. DS is caused by a mutation in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A). However, 25-30% of patients with DS are negative for the SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Recently, the first...

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Identifiers

PMID: 21531204
DOI: 10.1016/j.bbrc.2011.04.079

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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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