Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.Q676_V677Splc
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CLCN2

NM_004366.6:p.Q676_V677Splc

Associated Papers

Role of voltage-gated chloride channels in epilepsy: current insights and future directions.

Ni MM et al.

Frontiers in Pharmacology, 2025

Mutations affecting GABAergic signaling in seizures and epilepsy.

Galanopoulou AS

Pflugers Archiv : European Journal of Physiology, 2010

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C et al.

Human Mutation, 2009

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.

Everett K et al.

Epilepsy Research, 2007

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Stogmann E et al.

Neurogenetics, 2006

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

D'Agostino D et al.

Neurology, 2004

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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."