TY  - JOUR 
AU  - Cámara-Checa, A.
AU  - Perin, F.
AU  - Rubio-Alarcón, M.
AU  - Dago, M.
AU  - Crespo-García, T.
AU  - Rapún, J.
AU  - Marín, M.
AU  - Cebrián, J.
AU  - Gómez, R.
AU  - Bermúdez-Jiménez, F.
AU  - Monserrat Iglesias, Lorenzo
AU  - Tamargo, J.
AU  - Caballero, R.
AU  - Jiménez-Jáimez, J.
AU  - Delpón, E.
PY  - 2023
SN  - 1091-6490
UR  - http://hdl.handle.net/20.500.11940/20978
AB  - In a family with inappropriate sinus tachycardia (IST), we identified a mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide-gated type 4 (HCN4) channel, which contributes to the pacemaker current (If) in human sinoatrial node...
LA  - eng
KW  - Adult
KW  - Humans
KW  - Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
KW  - Tachycardia, Sinus
KW  - Potassium Channels
KW  - Ivabradine
KW  - Cyclic Nucleotide-Gated Cation Channels
KW  - Gain of Function Mutation
KW  - Muscle Proteins
KW  - Sinoatrial Node
KW  - Cardiomyopathies
TI  - A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family
DO  - 10.1073/pnas.2305135120
T2  - Proceedings of the National Academy of Sciences of the United States of America
KW  - AS A Coruña
KW  - CHUAC
VL  - 120
ER  -