Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R933G
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KCNT1

NM_020822.3:p.R933G

Associated Papers

KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.

Duan YZ et al.

Journal of Neurology, 2025

Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1.

Lu J et al.

Translational Neuroscience, 2022

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

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 longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
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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."