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Article

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

Pediatric neurology - 1 Feb 2006

Kearney Jennifer A, Wiste Anna K, Stephani Ulrich, Trudeau Michelle M, Siegel Anne, RamachandranNair Rajesh, Elterman Roy D, Muhle Hiltrud, Reinsdorf Juliane, Shields W Donald, Meisler Miriam H, Escayg Andrew

Abstract excerpt

Mutations in the voltage-gated sodium channel gene SCN1A are a major cause of severe myoclonic epilepsy of infancy (Dravet syndrome) and generalized epilepsy with febrile seizures plus. This study reports the identification of six de novo SCN1A mutations in patients with severe myoclonic epilepsy of infancy, including a tetranucleotide deletion in exon 26. The same deletion was previously observed in two...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 16458823
DOI: 10.1016/j.pediatrneurol.2005.07.009

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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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