title: Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
abstract: Genetic generalized epilepsy with febrile seizures plus (GEFS+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. The cases described here are of two brothers, one with severe myoclonic epilepsy of infancy (Dravet syndrome) and the other myoclonic-astatic epilepsy. Their father experienced one simple febrile seizure in infancy and two generalized tonic-clonic seizures after head trauma in adulthood, and had generalized epileptiform activity in the electroencephalogram. He died in a severe sport accident before genetic testing could be performed. In both siblings, but not in their healthy mother, DNA analysis identified an unreported point mutation (c.3925 C>T) in exon 20 of the SCN1A gene. The missense mutation was therefore assumed to be inherited from the father, who had a very mild clinical picture, with a single febrile seizure and only occasional generalized tonic-clonic seizures. The offspring have GEFS+ phenotypes with opposite severity, an illustration of the broad intrafamilial variability of SCN1A gene mutations.
authors.affiliation: Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria. pdimova@cablebg.net
authors.forename: Petia S
authors.initials: PS
authors.lastname: Dimova
authors.forename: Iglika
authors.initials: I
authors.lastname: Yordanova
authors.forename: Veneta
authors.initials: V
authors.lastname: Bojinova
authors.forename: Albena
authors.initials: A
authors.lastname: Jordanova
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremenski
mesh_terms: D000293:Adolescent; D002648:Child; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D003294:Seizures, Febrile / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels