Journal
CEPHALALGIA
Volume 26, Issue 3, Pages 324-328Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1111/j.1468-2982.2006.01002.x
Keywords
ATP1A2 gene; hemiplegic migraine; mutation
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Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.
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