Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report
Author:
Funder
European Commission
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference18 articles.
1. The molecular and phenotypic spectrum of CLCN4-related epilepsy;He;Epilepsia,2021
2. Chloride channel 4 is required for nerve growth factor-induced TrkA signaling and neurite outgrowth in PC12 cells and cortical neurons;Hur;Neuroscience,2013
3. Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report;Xu;BMC Pediatr,2021
4. 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;Mol Psychiatry,2018
5. Home - SNP - NCBI. https://www.ncbi.nlm.nih.gov/snp/. Accessed 22 Jan 2023.
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