<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

The TWIK-related spinal cord potassium channel (TRESK) is encoded by <i>KCNK18</i>, and variants in this gene have previously been associated with susceptibility to familial migraine with aura (MIM #613656). A single amino acid substitution in the same protein, p.Trp101Arg, has also been...

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Bibliographic Details
Main Authors: Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D’Adamo, Alfredo Brusco
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:International Journal of Molecular Sciences
Subjects:
<i>KCNK18</i>
TRESK
K2P
intellectual disability
potassium channel
autism spectrum disorder
Online Access:https://www.mdpi.com/1422-0067/22/11/6064

Internet

https://www.mdpi.com/1422-0067/22/11/6064

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