title: Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.
abstract: GABA(A) receptors mutations have been reported in few epilepsy families with febrile seizures (FS) followed by generalized epilepsy. It is not known if such mutations may underlie FS followed by partial epilepsy, which is a more common type of epilepsy. We searched for disease-causing mutations in the genes of the alpha1, alpha5, gamma2 and delta subunits of the GABA-A receptor that were previously shown to contain epilepsy-causing mutations or epilepsy susceptibility polymorphisms. All coding and untranslated exons of these four GABA(A) subunit genes were screened in 74 unrelated patients with familial partial epilepsy preceded by FS. Most patients had temporal lobe epilepsy (TLE). We did not detect any disease-causing mutations that would be consistent with missense, nonsense or splice site mutations in any of the four analyzed genes. We conclude that these genes are not a major genetic factor in familial TLE preceded by FS.
authors.affiliation: Department of Neurology, Vanderbilt University, Nashville, TN 37232-8552, USA.
authors.forename: Shaochun
authors.initials: S
authors.lastname: Ma
authors.forename: Bassel
authors.initials: B
authors.lastname: Abou-Khalil
authors.forename: Marcia A
authors.initials: MA
authors.lastname: Blair
authors.forename: James S
authors.initials: JS
authors.lastname: Sutcliffe
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Peter
authors.initials: P
authors.lastname: Hedera
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D004828:Epilepsies, Partial / Q000209:etiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D021122:Protein Subunits / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*; D003294:Seizures, Febrile / Q000150:complications / Q000235:genetics
chemical_list: D021122:Protein Subunits; D011963:Receptors, GABA-A