Article
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Circulation - 11 Mar 2014
Cerrone Marina, Lin Xianming, Zhang Mingliang, Agullo-Pascual Esperanza, Pfenniger Anna, Chkourko Gusky Halina, Novelli Valeria, Kim Changsung, Tirasawadichai Tiara, Judge Daniel P, Rothenberg Eli, Chen Huei-Sheng Vincent, Napolitano Carlo, Priori Silvia G, Delmar Mario
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) primarily associates with the loss of sodium channel function. Previous studies showed features consistent with sodium current (INa) deficit in patients carrying desmosomal mutations, diagnosed with arrhythmogenic cardiomyopathy (or arrhythmogenic right ventricu...
Topics
- Adult
- Animals
- Brugada Syndrome
- Cell Line
- Disease Models, Animal
- Female
- Genotype
- Heart Conduction System
- Humans
- Male
- Mice
- Mice, Mutant Strains
- Middle Aged
- Mutation, Missense