Varaico: Literature-Extracted Genetic Variants

Gene:KCNT2
Variant:p.F240C
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KCNT2

NM_198503.5:p.F240C

Associated Papers

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Cui F et al.

Frontiers in Genetics, 2024

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Cioclu MC et al.

Annals of Neurology, 2023

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Gururaj S et al.

Cell Reports, 2017

Hydrophobic interactions between the S5 segment and the pore helix stabilizes the closed state of Slo2.1 potassium channels.

Suzuki T et al.

Biochimica Et Biophysica Acta, 2016

Structural basis of ion permeation gating in Slo2.1 K+ channels.

Garg P et al.

The Journal of General Physiology, 2013

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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."