Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions

Abstract

A team of twelve geneticists and neurologists from centers in the Netherlands studied the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations.

Keywords

• infantile convulsion and choreoathetosis
• benign familial infantile convulsions
• heterozygous mutations