title: A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.
abstract: Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.
authors.affiliation: Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey.
authors.forename: Mutluay
authors.initials: M
authors.lastname: Arslan
authors.affiliation: Department of Pediatric Neurology, Dokuz Eylül University School of Medicine, Alsancak, İzmir 35210, Turkey.
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Beşiktaş, İstanbul 34342, Turkey.
authors.forename: Hande
authors.initials: H
authors.lastname: Cağlayan
authors.affiliation: Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey.
authors.forename: Rıdvan
authors.initials: R
authors.lastname: Akin
keywords: Dravet syndrome; Turkish; child; clinical practice; epilepsy; mutation; neural regeneration; neuroregeneration; refractory seizures; sodium channel α1 subunit gene