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
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.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
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
[Association between sequence variation of Env, Gag genes from the same source and HIV-1 disease progression and host genetic polymorphism].
Bai LS et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2007
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