Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference27 articles.
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3. Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness;Ben Arab;Genet. Epidemiol.,2004
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1. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05
2. Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy;Epilepsia Open;2023-10-23
3. Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy;2023-06-12
4. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review;Children;2023-03-15
5. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy;Journal of Inherited Metabolic Disease;2022-10-27
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