Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neurophysiology"
DOI: 10.1152/jn.00509.2021
Abstract: We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID) and/or epilepsy by whole-exome sequencing. These variants comprised of two nonsense and four missense alterations, were functionally characterized… read more here.
Keywords: intellectual disability; gof; human kcnq5; kcnq5 ... See more keywords
Abstract 4369129: Essential Role of KCNQ5 (Kv7.5) Potassium Channels in Vascular Reactivity and Adrenergic Signaling
Sign Up to like & getrecommendations! Published in 2025 at "Circulation"
DOI: 10.1161/circ.152.suppl_3.4369129
Abstract: Introduction/Background: Vascular tone dysregulation is central to cardiovascular pathophysiology. KCNQ (Kv7) potassium channels, primarily heteromeric KCNQ4/5 channels, regulate smooth muscle membrane potential and contractility, yet the specific role of the KCNQ5 subunit in vascular reactivity… read more here.
Keywords: kcnq5; role; kv7 potassium; vascular reactivity ... See more keywords