A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.

Wenjing TangMeichen ZhangEnchao QiuShanshan KongYingji LiHuanxian LiuZhao DongSheng-Yuan Yu

Published in: Cephalalgia : an international journal of headache (2019)

G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

Keyphrases

cerebral palsy
early onset
intellectual disability
binding protein
amino acid
endoplasmic reticulum
autism spectrum disorder