Associated Papers
The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy.
Li W et al.
Genomics, 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
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C et al.
Scientific Reports, 2022
35546177 (PubMed )
Supplement: 41598_2022_11932_MOESM1_ESM.xlsx › Supplementary_Table_-_Data
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?
Broomfield A et al.
Jimd Reports, 2018
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
Chen TT et al.
Neurology, 2013
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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