Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.F932L
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KCNT1

NM_020822.3:p.F932L

Associated Papers

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

Olguin SL et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Rychkov GY et al.

International Journal of Molecular Sciences, 2022

The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.

Zhang Q et al.

Advances in Experimental Medicine and Biology, 2021

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Suzuki T et al.

Annals of Clinical and Translational Neurology, 2020

32530565 (PubMed )
Supplement: ACN3-7-1117-s002.pdf

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Burgess R et al.

Annals of Neurology, 2019

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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."