Associated Papers
Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.
Mkrtchyan L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
39671184 (PubMed )
Supplement: pnas.2411182121.sapp.pdf
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD et al.
Journal of Neurophysiology, 2022
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Association between polygenetic risk scores related to sarcopenia risk and their interactions with regular exercise in a large cohort of Korean adults.
Park S
Clinical Nutrition (edinburgh, Scotland), 2021
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Genetic variations associated with pharmacoresistant epilepsy (Review).
Cárdenas-Rodríguez N et al.
Molecular Medicine Reports, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
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