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Research article

First published 2015-4

Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations

Enas Nasr, Eva Mamak, Anette Feigenbaum [...]

Journal of Child Neurology

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Research article

First published 2005-08

Focal Status Epilepticus as Atypical Presentation of Pyridoxine-Dependent Epilepsy

Akira Yoshii, Masanori Takeoka, Peter J. Kelly [...]

Journal of Child Neurology

Open access

Research article

First published 2026

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1 : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment

Anastasia Ambrose, Morganne McCabe, Shalini Bahl [...]

Therapeutic Advances in Rare Disease

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Case report

First published 2025

Pyridoxine Dependent Seizures Presenting as Intraventricular Hemorrhage in a Term Neonate

Bhoojata G, P.V. Rama Rao, Shreya

Journal of Neonatology

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Other

First published 1996-09

Pyridoxine-Dependent Epilepsy: The Need for Repeated Pyridoxine Trials and the Risk of Severe Electrocerebral Suppression With Intravenous Pyridoxine Infusion

Nancy E. Bass, Elaine Wyllie, Bruce Cohen [...]

Journal of Child Neurology

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Case report

First published 2019-12

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation

Licia Lugli, Maria Carolina Bariola, Luca Ori [...]

Journal of Child Neurology

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Research article

First published 2014-5

Atypical Vitamin B 6 Deficiency

Anna Baumgart, Sarah von Spiczak, Nanda M. Verhoeven-Duif [...]

Journal of Child Neurology

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Research article

First published 1992-01

Pyridoxine-Dependent Seizures: Report of a Case With Atypical Clinical Features and Abnormal MRI Scans

Rieko Tanaka, Mitsuyoshi Okumura, Jun Arima [...]

Journal of Child Neurology

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Review article

First published 2007-5

The Pediatric Neurotransmitter Disorders

Phillip L. Pearl, Jacob L. Taylor, Stacey Trzcinski [...]

Journal of Child Neurology

Open access

Research article

First published 2025-10

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures

Muhittin Bodur, Rabia Tutuncu Toker

Clinical Pediatrics

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