Varaico: Literature-Extracted Genetic Variants

Gene:KCNK18
Variant:p.W101R
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KCNK18

NM_181840.1:p.W101R

Associated Papers

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.

Majethia P et al.

Clinical Dysmorphology, 2023

Genetics of migraine: where are we now?

Grangeon L et al.

The Journal of Headache and Pain, 2023

Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.

Gotra P et al.

Molecular Neurobiology, 2021

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

Pavinato L et al.

International Journal of Molecular Sciences, 2021

The Background K+ Channel TRESK in Sensory Physiology and Pain.

Andres-Bilbe A et al.

International Journal of Molecular Sciences, 2020

Altered functional properties of a missense variant in the TRESK K+ channel (KCNK18) associated with migraine and intellectual disability.

Imbrici P et al.

Pflugers Archiv : European Journal of Physiology, 2020

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY et al.

Frontiers in Pediatrics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."