title: Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus).
abstract: Febrile seizures affect 2-5% of all children younger than 6 years. A small proportion of children with febrile seizures later develop epilepsy. The syndrome of generalized epilepsy with febrile seizures plus (GEFS+) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile seizures. Several genes have been localized for FS by linkage analysis, and three GEFS+ genes (SCN1A, SCN1B, GABRG2) have been identified. We identified a large multigenerational family with GEFS+ in France. All affected members had FSs. Among them, seven had other types of epileptic seizures including FSs after age 6 years, nonfebrile generalized seizures, or partial seizures later in life. Genetic linkage study excluded the candidate genes and loci for FS and GEFS+, thus proving the existence of a new GEFS+ genetic locus underlying the phenotype observed in this family.
authors.affiliation: INSERM U491, Marseille, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Gérard
authors.forename: Sandrine
authors.initials: S
authors.lastname: Pereira
authors.forename: Andrée
authors.initials: A
authors.lastname: Robaglia-Schlupp
authors.forename: Pierre
authors.initials: P
authors.lastname: Genton
authors.forename: Pierre
authors.initials: P
authors.lastname: Szepetowski
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005190:Family; D005260:Female; D005602:France / Q000453:epidemiology; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D003294:Seizures, Febrile / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*