Varaico: Literature-Extracted Genetic Variants

Gene:KCNH1
Variant:p.R535*
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KCNH1

NM_172362.3:p.R535*

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

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

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.

von Wrede R et al.

Genes, 2021

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