Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency-Reference-Cited by-同舟云学术

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Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

Published:2010-03-29 Issue:7 Volume:52 Page:e133-e142
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

SCHMITT BERNHARD,BAUMGARTNER MATTHIAS,MILLS PHILIPPA B,CLAYTON PETER T,JAKOBS CORNELIS,KELLER ELMAR,WOHLRAB GABRIELE

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.2010.03660.x/fullpdf

Reference25 articles.

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat Med,2006

2. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase;Mills;Hum Mol Genet,2005

3. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy;Plecko;Neuropediatrics,2005

4. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy;Gallagher;Ann Neurol,2009

5. Neonatal seizures with tonic clonic sequences and poor developmental outcome;Schmitt;Epilepsy Res,2005

Cited by 87 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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. Neurodevelopmental outcome of neonatal seizures: A longitudinal study;European Journal of Paediatric Neurology;2024-03

4. Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study;Frontiers in Neurology;2024-02-14

5. Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the ILAE Task Force on Neonatal Seizures;Epilepsia;2023-09

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