Varaico: Literature-Extracted Genetic Variants

Gene:KCNH1
Variant:p.R357W
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KCNH1

NM_172362.3:p.R357W

Associated Papers

The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.

Sundman AK et al.

Brain : a Journal of Neurology, 2026

Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.

Chand P et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.

Tian MQ et al.

Cns Neuroscience & Therapeutics, 2023

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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."