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Article

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Epilepsy research - 1 Nov 2009

Nabbout Rima, Depienne Christel, Chipaux Mathilde, Girard Benoit, Souville Isabelle, Trouillard Oriane, Dulac Olivier, Chelly Jamel, Afenjar Alexandra, Héron Delphine, Leguern Eric, Beldjord Cherif, Bienvenu Thierry, Bahi-Buisson Nadia

Abstract excerpt

BACKGROUND: Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25-30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms...

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Source

Identifiers

PMID: 19734009
DOI: 10.1016/j.eplepsyres.2009.07.004

Genes

CDKL5
ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19734009-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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