- 著者
- Tadashi Nakajima Reika Kawabata-Iwakawa Yoshiaki Kaneko Shin-ichiro Hamano Rie Sano Shuntaro Tamura Hiroshi Hasegawa Takashi Kobari Yoshihiko Kominato Masahiko Nishiyama Masahiko Kurabayashi
- 出版者
- International Heart Journal Association
- 雑誌
- International Heart Journal (ISSN:13492365)
- 巻号頁・発行日
- pp.20-203, (Released:2020-09-12)
- 参考文献数
- 19
- 被引用文献数
- 7
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 link between the KCND3 mutation with a mixed electrophysiological phenotype and cardiocerebral phenotypes, which may be defined as a novel cardiocerebral channelopathy.