title: Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.
abstract: We report the identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+). Six family members manifested isolated typical febrile seizures (FS), and five had typical FS associated with generalized epilepsy (FS+, generalized tonic/clonic seizures). Afebrile seizures occurred from childhood until the teenage years. The maximum two-point LOD score was 3.99 for markers D2S294 and D2S2314. Flanking markers place the GEFS+ locus between D2S141 and D2S116, with multipoint analysis favoring the 13-cM interval spanned by D2S294 and D2S364. This locus is the second GEFS+ locus to be reported, which suggests that this syndrome is genetically heterogeneous.
authors.affiliation: Division de Neuropsychiatrie, Hôpitaux Universitaires de Genève, Chêne-Bourg, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Moulard
authors.forename: M
authors.initials: M
authors.lastname: Guipponi
authors.forename: D
authors.initials: D
authors.lastname: Chaigne
authors.forename: D
authors.initials: D
authors.lastname: Mouthon
authors.forename: C
authors.initials: C
authors.lastname: Buresi
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics*