Varaico: Literature-Extracted Genetic Variants

Gene:KCNH1
Variant:p.R357L
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KCNH1

NM_172362.3:p.R357L

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

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

Alsubhi S et al.

Journal of Neurology, 2024

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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."