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
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Role of voltage-gated chloride channels in epilepsy: current insights and future directions.
Ni MM et al.
Frontiers in Pharmacology, 2025
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Abdulkareem AA et al.
Frontiers in Genetics, 2023
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P et al.
Npj Genomic Medicine, 2019
31452935 (PubMed )
Supplement: 41525_2019_93_MOESM12_ESM.xlsx › _1_path_or_prob_variant
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