Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

Sudden unexpected death is a catastrophic complicationof human epilepsy with an incidence of 6.3–9.3 per 1000person years in epilepsy patients entering surgery programs[1]. However, mechanisms and methods to prevent it arestill largely unknow n. A leading hypothesis suggests adysfunction of excitability that could underlie both epi-lepsy and cardiac arrhythmias, leading to death [1, 2]. Inrecent years, there has been increased interest in a possibleassociation between epilepsy channelopathies and cardiacarrhythmias. We report a patient with juvenile myoclonic epilepsy(JME or Janz’s syndrome) and a Brugada diagnostic ECGpattern revealed after a convulsive seizure. Genetic anal-ysis revealed a novel mutation in the PKP2 gene, encodingplakophilin 2, a myocardial desmosomal protein, which hasbeen associated with cardiac arrhythmias [5]. This obser-vation provides further evidence for a possible linkbetween idiopathic epilepsy and cardiac arrhythmias andthe related possible implication for Sudden UnexpectedDeath in EPilepsy (SUDEP) pathophysiology.