article_metadata: Pablo Dolz-Gaitón Mercedes Núñez Lucía Núñez Adriana Barana Irene Amorós Marcos Matamoros Marta Pérez-Hernández Marta González de la Fuente Miguel Alvarez-López Rosa Macías-Ruiz Luis Tercedor-Sánchez Juan Jiménez-Jáimez Eva Delpón Ricardo Caballero Juan Tamargo
article_metadata: 10.1371/journal.pone.0081493
article_metadata: PLoS One
article_metadata: 2013 Nov 25;8(11):e81493.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24363796/
article_metadata: Brugada Syndrome / genetics Frameshift Mutation / genetics NAV1.5 Voltage-Gated Sodium Channel / genetics NAV1.5 Voltage-Gated Sodium Channel / metabolism
article_metadata: Brugada Syndrome / genetics Frameshift Mutation / genetics NAV1.5 Voltage-Gated Sodium Channel / genetics NAV1.5 Voltage-Gated Sodium Channel / metabolism Case Reports Research Support, Non-U.S. Gov't Biological Transport / drug effects Female Humans Mexiletine / pharmacology Middle Aged Phenylbutyrates / pharmacology NAV1.5 Voltage-Gated Sodium Channel Phenylbutyrates Mexiletine 4-phenylbutyric acid
article_metadata: PMC3868464
article_metadata: 24363796
article_metadata: Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family
article_metadata: 2013