Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.G199_M200insFs
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CLCN2

NM_004366.6:p.G199_M200insFs

Associated Papers

Seizures and central vestibular nystagmus as the initial presentation of leukoencephalopathy with ataxia (LKPAT).

Nandana J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

CLCN2 variants in idiopathic generalized epilepsy.

Kleefuss-Lie A et al.

Nature Genetics, 2009

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

Saint-Martin C et al.

Human Mutation, 2009

Genes associated with idiopathic epilepsies: a current overview.

Lu Y et al.

Neurological Research, 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

Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.

Niemeyer MI et al.

Physiological Genomics, 2004

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K et al.

Nature Genetics, 2003

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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."