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:
caroline.hofmann@med.uni-heidelberg.de
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.
