title: Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.
abstract: Most epilepsies are characterized as "idiopathic" because of the lack of a known cause. Nevertheless, recently, there has been significant progress in the molecular genetics of idiopathic epilepsy. Mutations in gene-encoding ion channels were found to be the underlying disorder in all idiopathic epilepsies with a known molecular basis. Missense mutations in the voltage-gated sodium channel a1 subunit gene (SCN1A) were firstly identified in patients with generalized epilepsy with febrile seizures plus additional symptoms (GEFS + ). Subsequently, mutations of SCN1A were also found in patients with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome, and in patients with borderline SMEI (SMEB), a milder form of Dravet syndrome. We describe a case of a new missense de novo mutation of SCN1A in a child with the clinical features of borderline SMEI syndrome.
authors.affiliation: Department of Paediatrics, Venizelion General Hospital, Heraklion, Crete, Greece.
authors.forename: Evangelia
authors.initials: E
authors.lastname: Stefanaki
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Aggelakou
authors.forename: M
authors.initials: M
authors.lastname: Orfanou
authors.forename: E
authors.initials: E
authors.lastname: Kokori
authors.forename: S
authors.initials: S
authors.lastname: Boutoufianakis
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020125:Mutation, Missense / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels