Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation
Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation
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DOI：
10.1536/ihj.20-203
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发表时间：
2020-09-01
影响因子：
1.5
通讯作者：
Kurabayashi, Masahiko
中科院分区：
文献类型：
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作者：
Nakajima, Tadashi;Kawabata-Iwakawa, Reika;Kurabayashi, Masahiko
虽然 KCND3 V392I 突变独特地表现出 Kv4.3 的混合电生理表型，但有关突变携带者的临床信息有限。我们报告了两个青少年兄弟姐妹同时表现出心脏表型（早期复极综合征和阵发性心房颤动）和大脑表型（癫痫和智力障碍），我们在他们身上发现了 KCND3 V392I 突变。我们提出 KCND3 突变与混合电生理表型和心脑表型之间的联系，这可能被定义为一种新型心脑通道病。
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.