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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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Библиографические подробности
Опубликовано в: :Int J Mol Sci
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2021
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8200030/
https://ncbi.nlm.nih.gov/pubmed/34199759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22116064
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