Episodic kinesigenic dyskinesia 1 (EKD1, MIM#128200), more commonly called paroxysmal kinesigenic dyskinesia (PKD), is the most common type of paroxysmal dyskinesia (DYT10). It’s very heterogeneous clinically and characterized by recurrent and brief attacks of involuntary movements triggered by sudden voluntary movement without alteration of consciousness. In this article, we report the first description of EKD1 in a Moroccan family with the c.649dupC mutation in PRRT2 gene with some family members experiencing epilepsy as an additional symptom. Epilepsy and other paroxysmal disorders have already been described in PKD patients with or without PRRT2 gene mutation. The phenotype frequently reported are infantile convulsions with choreoathetosis syndrome, and benign familial infantile seizures. Interestingly, the index patient experienced an adult-onset epilepsy which is not avery well documented feature in the literature… Lire l’article intégral