2020年9月29日
Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.
International heart journal
- 巻
- 61
- 号
- 5
- 開始ページ
- 1049
- 終了ページ
- 1055
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1536/ihj.20-203
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.
- ID情報
-
- DOI : 10.1536/ihj.20-203
- PubMed ID : 32921676