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

• Published in: Neuroscience letters 2006-02, Vol.394 (1), p.74-78
• Main Authors: Ma, Shaochun, Abou-Khalil, Bassel, Blair, Marcia A., Sutcliffe, James S., Haines, Jonathan L., Hedera, Peter
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Case-Control Studies; DNA Mutational Analysis - methods; Epilepsies, Partial - etiology; Epilepsies, Partial - genetics; Familial epilepsy; Febrile seizures; Female; GABA receptors; Gene Frequency; Genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Male; Medical sciences; Mutation; Nervous system (semeiology, syndromes); Neurology; Polymorphism, Genetic; Protein Subunits - genetics; Receptors, GABA-A - genetics; Seizures, Febrile - complications; Seizures, Febrile - genetics; Temporal lobe epilepsy
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2005.10.006

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 α1, α5, γ2 and δ 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.