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Article

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.

Epilepsia - 1 Oct 2006

Marini Carla, Mei Davide, Helen Cross J, Guerrini Renzo

Abstract excerpt

PURPOSE: Mutations of the alpha1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals. METHODS: We studied two sisters with SMEI and their father with...

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Identifiers

PMID: 17054697
DOI: 10.1111/j.1528-1167.2006.00675.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17054697-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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