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
40800199 (PubMed )
Supplement: tp-14-07-1717-supplementary.pdf
Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.
Planells-Cases R et al.
Nature Communications, 2025
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 )
Supplement: Data_Sheet_1.PDF
Select a paper to view details