Associated Papers
The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy.
Li W et al.
Genomics, 2025
Role of voltage-gated chloride channels in epilepsy: current insights and future directions.
Ni MM et al.
Frontiers in Pharmacology, 2025
Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.
Ma T et al.
Nature Communications, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B
Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.
Di Stefano G et al.
Cephalalgia : an International Journal of Headache, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
A Rare Novel CLCN2 Variation and Risk of Gilles de la Tourette Syndrome: Whole-Exome Sequencing in a Multiplex Family and a Follow-Up Study in a Chinese Population.
Yuan A et al.
Frontiers in Psychiatry, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Disruption of ClC-2 expression is associated with progressive neurodegeneration in aging mice.
Cortez MA et al.
Neuroscience, 2010
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Saint-Martin C et al.
Human Mutation, 2009
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