Study on novel mutation of CACNA1A gene in familial hemiplegic migraine
10.3969/j.issn.1671-8348.2016.10.016
- VernacularTitle:家族性偏瘫性偏头痛CACN A1A 基因新突变的研究
- Author:
Xiangqin LIU
;
Xuntai MA
;
Qiong DU
;
Ning YAN
- Publication Type:Journal Article
- Keywords:
migraine with aura;
genes,CACNA1A;
point mutation
- From:
Chongqing Medicine
2016;45(10):1348-1349,1352
- CountryChina
- Language:Chinese
-
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 .
