title: The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).
abstract: Generalized epilepsy with febrile seizure plus (GEFS+) is an autosomal dominant disorder. In the literature, 5 responsible genes were identified and 2 novel susceptibility loci for GEFS+ at 2p24 and 8p23-p21 were reported, indicating the genetic heterogeneity of this disorder. The aim of this report is to identify the responsible loci in a large affected Tunisian family by performing a 10cM density genome-wide scan. The highest multipoint logarithm of odds (LOD) score (1.04) was found for D5S407 in the absence of recombination. Two other interesting regions were found around marker D19S210 (LOD=0.799) and D7S484 (LOD=0.61) markers. To fine map these loci, additional markers in 2 regions on 5q13.3 and 7p14.2 were analyzed and positive LOD scores for both loci were obtained. Sequencing of the Sodium channel subunit beta-1 gene (SCN1B) (19q13.1) showed the absence of any causal mutation. Our findings emphasized the genetic heterogeneity of febrile seizures.
authors.affiliation: Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, Tunisia.
authors.forename: Nourhene
authors.initials: N
authors.lastname: Fendri-Kriaa
authors.forename: Nacim
authors.initials: N
authors.lastname: Louhichi
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Ghazi
authors.initials: G
authors.lastname: Chabchoub
authors.forename: Fatma
authors.initials: F
authors.lastname: Kammoun
authors.forename: Ikhlass Hadj
authors.initials: IH
authors.lastname: Salem
authors.forename: Ahmed
authors.initials: A
authors.lastname: Rebai
authors.forename: Chahnez
authors.initials: C
authors.lastname: Triki
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics; D014416:Tunisia; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
chemical_list: C470379:SCN1B protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit