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Neurologic complications of genetic channelopathies.
Franklin, Wayne H; Laubham, Matthew.
Afiliação
  • Franklin WH; Department of Pediatrics, Loyola University Chicago, Stritch School of Medicine, Maywood, IL, United States. Electronic address: wayne.franklin@lumc.edu.
  • Laubham M; Department of Medicine, Ohio State University, Columbus, OH, United States.
Handb Clin Neurol ; 177: 185-188, 2021.
Article em En | MEDLINE | ID: mdl-33632437
ABSTRACT
This chapter describes what a channelopathy is and how mutations in the genes result in different types of clinical abnormalities. It provides a description of common types of cardiac channelopathies with examples of how there are some areas of overlap with sensory-neuromuscular channelopathies. We describe the cardiac channelopathies of Jervell and Lange-Nielson syndrome, Andersen-Tawil syndrome, Timothy syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and sinoatrial node dysfunction and deafness. We also discuss sudden unexpected death in epilepsy and how it could relate to some cardiac channelopathies.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canalopatias Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canalopatias Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article