Associated Papers
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J et al.
Ebiomedicine, 2022
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
Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.
Kang PW et al.
Science Advances, 2020
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
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