Associated Papers
The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy.
Li W et al.
Genomics, 2025
[Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review].
Zhou Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report.
Ohira M et al.
Bmc Neurology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR et al.
Brain Communications, 2024
Brain imaging findings in CLCN2-related leukoencephalopathy.
Abreu VS et al.
Pediatric Radiology, 2023
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
Xu P et al.
Human Genetics, 2023
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W et al.
Clinical Parkinsonism & Related Disorders, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
A Tunisian patient with CLCN2-related leukoencephalopathy.
Ben Mohamed D et al.
Clinical Case Reports, 2022
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
CLCN2-related leukoencephalopathy: a case report and review of the literature.
Guo Z et al.
Bmc Neurology, 2019
Regulation of ClC-2 gating by intracellular ATP.
Stölting G et al.
Pflugers Archiv : European Journal of Physiology, 2013
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Klassen T et al.
Cell, 2011