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...
Egile Nagusiak: | , , , , , , , , , , , |
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Formatua: | Journal article |
Hizkuntza: | English |
Argitaratua: |
MDPI
2021
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