Pyridoxine-dependent Epilepsy
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Last Posted: Apr 26, 2024
- Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Chuchu Fang, et al. Epilepsy research 2024 0 107363 - The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin Curtis R, et al. Journal of inherited metabolic disease 2018 0 (2) 353-361 - Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy R L P, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 0 (4) 662-666 - Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao Xianru, et al. Developmental medicine and child neurology 2019 0 (3) 315-321 - Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
Jiao Xianru, et al. Frontiers in genetics 2021 0 644447 - A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.
Jiao Xianru, et al. Frontiers in genetics 2022 0 804461 - Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Costain Gregory et al. Neuroscience 2019 Sep - Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Wempe Michael F et al. Journal of inherited metabolic disease 2019 Jan - [Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Xue J, et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2016 8 (8) 592-6 - A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Xue Jiao, et al. Epilepsy research 2015 10 1-4
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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