An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

Martinez-Moreno, Rebecca; Selga, Elisabet; Riuró, Helena; Carreras, David; Parnes, Mered; Srinivasan, Chandra; Wangler, Michael F; Pérez, Guillermo J; Scornik, Fabiana S; Brugada, Ramon

An SCN1B Variant Affects Both Cardiac-Type (Na_V1.5) and Brain-Type (Na_V1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

Martinez-Moreno, Rebecca; Selga, Elisabet; Riuró, Helena; Carreras, David; Parnes, Mered; Srinivasan, Chandra; Wangler, Michael F; Pérez, Guillermo J; Scornik, Fabiana S; Brugada, Ramon.

Afiliação

Martinez-Moreno R; Departament de Ciències Mèdiques, Facultat de Medicina, Universitat de Girona, Girona, Spain.
Selga E; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, Girona, Spain.
Riuró H; Departament de Ciències Mèdiques, Facultat de Medicina, Universitat de Girona, Girona, Spain.
Carreras D; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, Girona, Spain.
Parnes M; Faculty of Medicine, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.
Srinivasan C; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV) Madrid, Spain.
Wangler MF; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, Girona, Spain.
Pérez GJ; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, Girona, Spain.
Scornik FS; Blue Bird Circle Clinic for Pediatric Neurology, Section, of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Brugada R; Section of Pediatric Cardiac Electrophysiology, Division of Pediatric Cardiology, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX, United States.

Front Cell Dev Biol ; 8: 528742, 2020.

Article em En | MEDLINE | ID: mdl-33134290

Palavras-chave

NaV1.1; NaV1.5; NaVß1; NaVß1b; brain hyperexcitability; cardiac arrhythmia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article