A novel ATP1A2 mutation in a family with FHM type II

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.