title: Autism in several members of a family with generalized epilepsy with febrile seizures plus.
abstract: The neurobiologic basis for autism is not well understood. In contrast, there have been several recent discoveries into the genetics of generalized epilepsy with febrile seizures plus, a group of epilepsy syndromes characterized by multiple seizure phenotypes. Here we describe a family with generalized epilepsy with febrile seizures plus and variably expressed autism spectrum disorder that does not show linkage to any of the four known generalized epilepsy with febrile seizures plus loci. A relationship between these two disorders has not previously been described.
authors.affiliation: Division of Biological Sciences, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0624, USA.
authors.forename: Tracy J
authors.initials: TJ
authors.lastname: Dixon-Salazar
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Keeler
authors.forename: Doris A
authors.initials: DA
authors.lastname: Trauner
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D000328:Adult; D000368:Aged; D001321:Autistic Disorder / Q000150:complications* / Q000235:genetics*; D002648:Child; D004829:Epilepsy, Generalized / Q000150:complications* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B / Q000235:genetics; D003294:Seizures, Febrile / Q000150:complications* / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
chemical_list: C106350:GABRR2 protein, human; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B; C568242:SCN1A protein, human; C470379:SCN1B protein, human; C568251:SCN2A protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit