KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

The TWIK-related spinal cord potassium channel (TRESK) is encoded by KCNK18, 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 associated with in...

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Detalles Bibliográficos
Autores principales: Pavinato, Lisa, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro, Tartaglia, Marco, Pessia, Mauro, Tucker, Stephen J., D’Adamo, Maria Cristina, Brusco, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8200030/
https://www.ncbi.nlm.nih.gov/pubmed/34199759
http://dx.doi.org/10.3390/ijms22116064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8200030/
https://www.ncbi.nlm.nih.gov/pubmed/34199759
http://dx.doi.org/10.3390/ijms22116064

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