PRRT2: A Different Kind of Hemiplegic Migraine Gene

The key clinical feature of hemiplegic migraine (HM) is motor aura symptomatology. The diagnosis is confirmed by the finding of autosomal dominantly inherited mutations in CACNA1A, ATP1A2 or SCN1A. Discovery of new genes will further diagnostic confirmation and migraine pathophysiological concepts. PRRT2 mutations have been identified in several disorders, foremost paroxysmal kinesigenic dyskinesia (PKD), and benign familial infantile seizures and were presumed to be important in a few HM cases.

Now, researchers have detected PRRT2 mutations in 30 out of 860 HM probands and in 19 of their relatives, 13 of whom displayed HM. The highly recurrent c.649dupC PRRT2 mutation was found in half the probands. This and other identified variants that a…