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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...

詳細記述

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書誌詳細
出版年:Int J Mol Sci
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
オンライン・アクセス: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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