Associated Papers
Clinical features and genetic analysis of epilepsy caused by CLCN4 gene mutation: a case report and literature review.
Mao DD et al.
Translational Pediatrics, 2025
Role of voltage-gated chloride channels in epilepsy: current insights and future directions.
Ni MM et al.
Frontiers in Pharmacology, 2025
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
Rossi J et al.
Brain & Development, 2023
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.
Li S et al.
Frontiers in Neurology, 2023
37789889 (PubMed )
Supplement: Data_Sheet_1.PDF
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.
Guzman RE et al.
Frontiers in Molecular Neuroscience, 2022
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H et al.
Epilepsia, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE et al.
Molecular Psychiatry, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
Poroca DR et al.
Frontiers in Pharmacology, 2017
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.
Jentsch TJ
The Journal of Physiology, 2015
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