Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.L296F
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KCNA1

NM_000217.3:p.L296F

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide.

Zhao R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Genetic Background of Epilepsy and Antiepileptic Treatments.

Borowicz-Reutt K et al.

International Journal of Molecular Sciences, 2023

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

Paulhus K et al.

International Journal of Molecular Sciences, 2023

KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.

Müller P et al.

Annals of Clinical and Translational Neurology, 2023

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