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Article

Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.

The journal of headache and pain - 12 Aug 2021

Li Yingji, Tang Wenjing, Kang Li, Kong Shanshan, Dong Zhao, Zhao Dengfa, Liu Ruozhuo, Yu Shengyuan

Abstract excerpt

BACKGROUND: Mutations in ATP1A2, the gene encoding the α2 subunit of Na+/K+-ATPase, are the main cause of familial hemiplegic migraine type 2 (FHM2). The clinical presentation of FHM2 with mutations in the same gene varies from pure FHM to severe forms with epilepsy and intellectual disability, but the correlation of these symptoms with different ATP1A2 mutations is still unclear. METHODS: Ten ATP1A2 missense...

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PMID: 34384358
DOI: 10.1186/s10194-021-01309-4
PMCID: PMC8359390

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