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

Article type: Research Article

Authors: Hofmann, Caroline | Baur, Marc-Oliver | Skladny, Heyko

Affiliations: Department of Pediatrics, Pediatric Neurology, University Hospital Mannheim, Mannheim, Germany | Center for Human Genetics (ZHMA), Mannheim, Germany

Note: [] Correspondence: Dr. Caroline Hofmann, M.D., Department of Pediatrics, Pediatric Neurology, University Hospital Mannheim, Mannheim, Germany. Tel.: +49 175 5956681; Fax: +49 6327 5641; E-mail: [email protected]

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

DOI: 10.3233/JPN-2010-0447

Journal: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 55-58, 2011