The characters of clinic,electroencephalogram and gene in a Chinese family with benign familial infantile convulsions

Objective To report a Chinese family with benign familial infantile convulsions(BFIC)and paroxysmal kinesigenic dyskinesia and investigate its characters of clinic,electroencephalogram(EEG)and gene.Methods The clinical data of this family was analyzed.The blood samples of 11 members were collected.By PCR-DNA direct sequencing,the mutation analysis of KCNQ2,KCNQ3 and SCN2A gene was made for the proband.Results There were 6 patients with BFIC in the three generation family.The seizures were observed in every patient at the age of month 6 and disappeared around the age of one years old,the outcome of every patient was well.The proband presented paroxysmal kinesigenic dyskinesia at the age of 15 years old,the seizure charges were observed in 24 hour EEG.No gene mutation of KCNQ2,KCNQ3 and SCN2A was found in the proband.Conclusion BFIC patient can be accompanied by PKD,PKD patient may have the abnormal EEG.This BFIC family wasn't caused by the mutation of KCNQ2,KCNQ3 and SCN2A gene,which suggested genetic heterogeneity and a new locus for BFIC.