Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference22 articles.
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1. PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications;Seizure: European Journal of Epilepsy;2024-05
2. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05
3. Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines;JIMD Reports;2024-04-03
4. Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report;Pediatric Neurology;2023-12
5. Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy;Frontiers in Neuroscience;2023-05-12
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