Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.S937G
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KCNT1

NM_020822.3:p.S937G

Associated Papers

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.

Olguin SL et al.

Biorxiv : the Preprint Server for Biology, 2025

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.

Trivisano M et al.

Annals of Neurology, 2025

Editorial: Pathogenic potassium channel variants in neurological disorders: from functional analysis to personalized pharmacological approaches.

Servettini I et al.

Frontiers in Cellular Neuroscience, 2025

Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.

Mosca I et al.

Frontiers in Cellular Neuroscience, 2024

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes.

Filareto I et al.

Frontiers in Cellular Neuroscience, 2024

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

Rychkov GY et al.

International Journal of Molecular Sciences, 2022

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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."