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
10.1371/journal.pone.0081493
PLoS One
2013 Nov 25;8(11):e81493.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24363796/
Brugada Syndrome / genetics Frameshift Mutation / genetics NAV1.5 Voltage-Gated Sodium Channel / genetics NAV1.5 Voltage-Gated Sodium Channel / metabolism
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
PMC3868464
24363796
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
2013