Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.C377S
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KCNT1

NM_020822.3:p.C377S

Associated Papers

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

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.

Ikeda A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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

KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

Borlot F et al.

Epilepsia, 2020

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

32655623 (PubMed )
Supplement: Table_1.docx

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

Kawasaki Y et al.

The Journal of Pediatrics, 2017

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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."