Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.

We report two teenage siblings exhibiting both cardiac (early repolarization syndrome and paroxysmal atrial fibrillation) and cerebral phenotypes (epilepsy and intellectual disability), in whom we identified the KCND3 V392I mutation. We propose a link between the KCND3 mutation with a mixed electrophysiological phenotype and cardiocerebral phenotypes, which may be defined as a novel cardiocerebral channelopathy. PMID: 32921676 [PubMed - as supplied by publisher]
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research