Pyridoxine Dependent Epilepsy - Toxicology

Relevant Publications

A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation.

Issue Release: 2024

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

Issue Release: 2024

Utility and limitations of EEG in the diagnosis and management of -related pyridoxine-dependent epilepsy. A retrospective observational study.

Issue Release: 2024

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Issue Release: 2024

Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy.

Issue Release: 2024

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.

Issue Release: 2024

PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications.

Issue Release: 2024

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis.

Issue Release: 2024

Identifying Metabolic Diseases That Precipitate Neonatal Seizures.

Issue Release: 2024

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.

Issue Release: 2024

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.

Issue Release: 2024

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Issue Release: 2024

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.

Issue Release: 2023

Update current understanding of neurometabolic disorders related to lysine metabolism.

Issue Release: 2023

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.

Issue Release: 2023

Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy.

Issue Release: 2023

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.

Issue Release: 2023

Recent advances in neurometabolic diseases: The genetic role in the modern era.

Issue Release: 2023

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Issue Release: 2023

Comment: Amenable Treatable Severe Pediatric Epilepsies.

Issue Release: 2023

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