Two cases of hemiplegic migraine caused by ATP1A2 gene mutation

doi:10.3969/j.issn.1674-8115.2022.08.023

Abstract

Abstract:

Both 2 cases developed hemiplegic migraine at an early age. The clinical manifestations were almost the same, featuring visual disturbance (such as visual flash) and hemiplegia or hemiparesis. A unilateral pulsating headache with nausea and vomiting developed soon after these auras which lasted about half an hour. The headache was relieved after rest. No abnormality was found in the neurological examination, cranial CT, MRI, electroencephalogram and metabolic disease examination. According to The International Classification of Headache Disorders, 3rd edition (ICHD-3) , both 2 cases were presented as typical pure hemiplegic migraine without other neurological disorders. Genetic sequencing showed ATP1A2 gene mutation in the 2 patients. Heterozygous mutation c.G2284A/p.G762S was present in case 1 and it has previously been shown to be a pathogenic mutation. Case 2 was identified with c.C3022T/p.R1008W, and no related reports were found in the previous literature and databases. According to the standard of American College of Medical Genetics and Genomics (ACMG), c.G2284A/p.G762S in case 1 was as "likely pathogenic" and c.C3022T/p.R1008W in case 2 was as "uncertain significance".

Key words: hemiplegic migraine, ATP1A2, pure phenotype, clinical feature

CLC Number:

R747.2

DING Siqi, HUANG Xiaojun, ZHAN Feixia, TIAN Wotu, CAO Li. Two cases of hemiplegic migraine caused by ATP1A2 gene mutation[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(8): 1158-1162.

Figures/Tables 1

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References 31

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