<i>PRRT2</i>phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

Abstract

PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. The identification of PRRT2 as a major gene for the PKD-ICCA-BFIC spectrum allows better disease classification, molecular confirmation of the clinical diagnosis, and genetic testing and counseling.