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Journal of Pediatric Neurology 2011; 09(01): 055-058
DOI: 10.3233/JPN-2010-0447
Georg Thieme Verlag KG Stuttgart – New York

Familial SCN1A missense mutation over three generations, from febrile seizures to severe myoclonic epilepsy in infancy

Authors

  • Caroline Hofmann

    a   Department of Pediatrics, Pediatric Neurology, University Hospital Mannheim, Mannheim, Germany

  • Marc-Oliver Baur

    a   Department of Pediatrics, Pediatric Neurology, University Hospital Mannheim, Mannheim, Germany

  • Heyko Skladny

    b   Center for Human Genetics (ZHMA), Mannheim, Germany

Subject Editor:
Further Information

Publication History

21 July 2009

03 February 2010

Publication Date:
30 July 2015 (online)

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Abstract

Mutations of the sodium channel alpha subunit type 1 gene (SCN1A) gene, encoding the voltage gated sodium channel alpha-subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI). So far over 250 SMEI related SCN1A mutations have been identified of which 95% are considered de novo. We report a familial SCN1A missense mutation over three generations with extremely variable phenotypes, from simple febrile seizures to SMEI.

Keywords

SMEI - familial SCN1A mutation - Dravet syndrome