Polymorphism analysis of mutated GABA_A receptor channels of the sibling patients with generalized epilepsy with febrile seizure plus

Objective To find whether reported exons mutation of gamma-aminobutyric acid(GABA) receptor channels exists in sibling patients with generalized epilepsy with febrile seizure plus(GEFS+) by polymorphism analysis.Methods Three groups of sibling patients with GEFS+ were selected.DNA was extracted from peripheral blood for polymerase chain reaction analysis.The sequences were compared with already reported mutation points to test mutation and polymorphism.Results No mutation or polymorphism of reported GABAA receptors occurred in DNA of sibling patients with GEFS+.Conclusion The reported mutation points in GABAA receptors may not be the main factor in sibling patients with GEFS+ in North China.