title: GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.
abstract: The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families. We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis included a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing. The data excluded the involvement of all known published mutations. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents. Our results corroborate the genetic heterogeneity of GEFS+ predominantly in epilepsy patients of different countries and ethnic groups.
authors.affiliation: Neurological Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Mrabet
authors.forename: N
authors.initials: N
authors.lastname: Belhedi
authors.forename: S
authors.initials: S
authors.lastname: Bouchlaka
authors.forename: A
authors.initials: A
authors.lastname: El Gaaied
authors.forename: A
authors.initials: A
authors.lastname: Mrabet
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D014416:Tunisia; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
chemical_list: C546279:GABRG2 protein, human; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011963:Receptors, GABA-A; C568242:SCN1A protein, human; C470379:SCN1B protein, human; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit