PRRT2 and hemiplegic migraine: A complex association

Hemiplegic migraine (HM) is a rare migraine subtype characterized by hemiparesis during the attack and is associated with at least 3 genes: CACNA1A, ATP1A2, and SCN1A.1 Recent reports suggested that the proline-rich transmembrane protein PRRT2 gene might be the fourth gene for HM.2 In the vast majority of cases, PRRT2 is associated with paroxysmal kinesigenic dyskinesia, benign familial infantile seizures (BFIS), or infantile convulsion choreoathetosis syndrome. In families with such a "typical PRRT2 phenotype," HM was reported in a few PRRT2 mutation carriers. Most of these cases also had a "typical PRRT2 phenotype."2 Vice versa, PRRT2 mutations were found in 5 out of over 200 index cases with HM; 2 of these 5 PRRT2 mutation carriers also had features of "typical PRRT2 phenotypes."3,4

Source: Neurology - July 14, 2014 Category: Neurology Authors: Pelzer, N., de Vries, B., Kamphorst, J. T., Vijfhuizen, L. S., Ferrari, M. D., Haan, J., van den Maagdenberg, A. M. J. M., Terwindt, G. M. Tags: Migraine, All Movement Disorders, All Epilepsy/Seizures, Association studies in genetics, Ion channel gene defects CLINICAL/SCIENTIFIC NOTES Source Type: research