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Article

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Human mutation - 1 Sept 2006

Suls Arvid, Claeys Kristl G, Goossens Dirk, Harding Boris, Van Luijk Rob, Scheers Stefaan, Deprez Liesbet, Audenaert Dominique, Van Dyck Tine, Beeckmans Sabine, Smouts Iris, Ceulemans Berten, Lagae Lieven, Buyse Gunnar, Barisic Nina, Misson Jean-Paul, Wauters Jan, Del-Favero Jurgen, De Jonghe Peter, Claes Lieve R F

Abstract excerpt

Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A) have been identified. The majority of patients have truncating mutat...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16865694
DOI: 10.1002/humu.20350

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16865694-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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