A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference15 articles.
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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. Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency;Frontiers in Genetics;2021-04-01
3. Metabolic Disorders Presenting with Seizures in the Neonatal Period;Seminars in Neurology;2020-03-17
4. Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study;Developmental Medicine & Child Neurology;2019-11-18
5. Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy;Scientific Reports;2019-08-06
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