Study of candidate gene cHRNA4 for familial epilepsy syndrome

OBJECTIVE: To screen a three-generation familial partial epilepsy with variable foci (FPEVF) family with epilepsy to identify the cHRNA4 gene (a candidate gene).

PATIENTS AND METHODS: A total of 18 members of the three-generation FPEVF family with partial epilepsy were selected, and 18 blood samples were collected for investigation. Among them, five members were affected by epilepsy, and another 13 members were not affected. A pedigree chart was mapped to comprehensively analyze the clinical characteristics of each member, including ictal semiology, electroencephalogram (EEG), past medical history, MRI features, neuropsychological MMSE (mini-mental state examination) scores, etc. PCR and Sanger sequencing method were used to screen the mutant gene cHRNA4.

RESULTS: cHRNA4 genes of all affected members were positively mutated, and that of the unaffected members were negative. The positive mutation was base A instead of base G.

CONCLUSIONS: cHRNA4 is the causative gene of FPEVF, and genes of the affected members are all heterozygotes mutations.

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