Associated Papers
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A et al.
Clinical Genetics, 2026
Role of voltage-gated chloride channels in epilepsy: current insights and future directions.
Ni MM et al.
Frontiers in Pharmacology, 2025
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.
He H et al.
Annals of Neurology, 2024
Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B et al.
Science Advances, 2023
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters.
Coppola MA et al.
Life (basel, Switzerland), 2023
Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders.
Zifarelli G et al.
The Journal of Physiology, 2022
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.
He H et al.
Molecular Neurobiology, 2021
Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.
Bose S et al.
Frontiers in Cell and Developmental Biology, 2021
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM et al.
American Journal of Human Genetics, 2020
Novel West syndrome candidate genes in a Chinese cohort.
Peng J et al.
Cns Neuroscience & Therapeutics, 2018
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
Neagoe I et al.
The Journal of Biological Chemistry, 2010
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