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Article

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

International journal of molecular sciences - 4 Jun 2021

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

Abstract excerpt

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 intellectual disability (ID), opening the possibility that variants in this gene might be involved in different...

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PMID: 34199759
DOI: 10.3390/ijms22116064
PMCID: PMC8200030

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