Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.
Int Heart J
; 61(5): 1049-1055, 2020 Sep 29.
Article
em En
| MEDLINE
| ID: mdl-32921676
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrilação Atrial
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Epilepsias Parciais
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Canais de Potássio Shal
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Canalopatias
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Middle aged
Idioma:
En
Revista:
Int Heart J
Assunto da revista:
CARDIOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article