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Article

Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.

International heart journal - 29 Sept 2020

Nakajima Tadashi, Kawabata-Iwakawa Reika, Kaneko Yoshiaki, Hamano Shin-Ichiro, Sano Rie, Tamura Shuntaro, Hasegawa Hiroshi, Kobari Takashi, Kominato Yoshihiko, Nishiyama Masahiko, Kurabayashi Masahiko

Abstract excerpt

While a KCND3 V392I mutation uniquely displays a mixed electrophysiological phenotype of Kv4.3, only limited clinical information on the mutation carriers is available. 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...

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PMID: 32921676
DOI: 10.1536/ihj.20-203

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