• A case for newborn screening for pyridoxine-dependent epilepsy
• A case of pyridoxine-dependent epilepsy with novel <em>ALDH7A1</em> mutations
• A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations
• A founder mutation in the <em>PLPBP</em> gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy
• A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy
• A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
• A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation
• A Rare Presentation Characterized by Epileptic Spasms in <em>ALDH7A1</em>, Pyridox(am)ine-5'-Phosphate Oxidase, and <em>PLPBP</em> Deficiency
• An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine
• Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With <em>ALDH7A1</em> Deficiency
• Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review
• Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency
• Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
• Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency
• Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1
• Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
• Cerebral folate deficiency: Analytical tests and differential diagnosis
• Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
• Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study
• Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy
• Clinical Reasoning: Pediatric Seizures of Unknown Cause
• Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
• Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency
• Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
• Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
• Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
• Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus
• Dietary management for pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines
• Disorders affecting vitamin B₆ metabolism
• Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy
• Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children
• Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds?
• Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review
• Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
• Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses
• Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation
• Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9
• Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis
• Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review
• Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients
• Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
• High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment
• Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics
• Identifying Metabolic Diseases That Precipitate Neonatal Seizures
• Identifying mutations in epilepsy genes: Impact on treatment selection
• Impact of enteral arginine supplementation on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism
• Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function
• Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency
• Inherited Disorders of Lysine Metabolism: A Review
• Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
• Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review
• KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
• Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings
• Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication
• Low Serum Pyridoxine Levels Worsen Seizure Control in Adult Epilepsy Patients
• Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease
• Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
• Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy
• Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy
• Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy
• Neonatal pyridoxine administration long lastingly accelerates cortical spreading depression in male rats, without affecting anxiety-like behavior
• New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency
• P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease
• Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy
• Pearls &amp; Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy
• Pipecolic Acid Quantification Using Gas Chromatography-coupled Mass Spectrometry
• PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
• Priorities for Newborn Screening of Genetic Epilepsy
• Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate
• Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1
• Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too
• Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
• PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications
• Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures
• Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures
• Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene
• Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene
• Pyridoxine-dependent epilepsy is more than just epilepsy
• Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report
• Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation
• Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy
• Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy
• Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1
• Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy
• Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening
• The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
• The effectiveness of correcting abnormal metabolic profiles
• The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy
• The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies
• The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
• Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
• Treatable Cause of Refractory Seizures in an Infant with a Novel Mutation
• Treatment of Refractory Convulsive Status Epilepticus: A Comprehensive Review by the American Epilepsy Society Treatments Committee
• Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
• Update current understanding of neurometabolic disorders related to lysine metabolism
• Update on the treatment of vitamin B6 dependent epilepsies
• Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies
• Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
• Validated UPLC-MS/MS method for the analysis of vitamin B₆ pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid
• West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature