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
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.
He H et al.
Journal of Neurology, 2024
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.
Li S et al.
Frontiers in Neurology, 2023
37789889 (PubMed )
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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
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
Guo YX et al.
International Journal of General Medicine, 2021
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
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