Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R474G
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KCNT1

NM_020822.3:p.R474G

Associated Papers

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

Duan YZ et al.

Journal of Neurology, 2025

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

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

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

Targeting KNa1.1 channels in KCNT1-associated epilepsy.

Cole BA et al.

Trends in Pharmacological Sciences, 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

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.

Datta AN et al.

Journal of Child Neurology, 2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Demos M et al.

Frontiers in 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."