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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Bibliografiska uppgifter
Huvudupphovsmän: Pavinato, L, Nematian-Ardestani, E, Zonta, A, De Rubeis, S, Buxbaum, J, Mancini, C, Bruselles, A, Tartaglia, M, Pessia, M, Tucker, SJ, D'Adamo, MC, Brusco, A
Materialtyp: Journal article
Språk:English
Publicerad: MDPI 2021