Study on novel mutation of CACNA1A gene in familial hemiplegic migraine / 重庆医学

ABSTRACT

Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .