Associated Papers
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Brands MM et al.
Neuropediatrics, 2026
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.
Schuurmans IME et al.
Molecular Therapy. Nucleic Acids, 2025
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.
Bottino M et al.
Molecular Genetics and Metabolism Reports, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.
Donge M et al.
International Journal of Neonatal Screening, 2025
Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.
Erdal R et al.
Metabolites, 2025
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Pauly K et al.
Molecular Genetics and Metabolism, 2025
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis.
Schuurmans IME et al.
Stem Cell Research, 2024
Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
Korasick DA et al.
Chemico-biological Interactions, 2024
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C et al.
Epilepsy Research, 2024
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Arntsen V et al.
Frontiers in Neurology, 2024
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.
Lipiński P et al.
Frontiers in Genetics, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.
Chauhan A et al.
Pediatric Neurology, 2023
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D et al.
International Journal of Molecular Sciences, 2023
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
Mastrangelo M et al.
Children (basel, Switzerland), 2023
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.
Coughlin CR et al.
Annals of the Child Neurology Society, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.
Tseng LA et al.
Molecular Genetics and Metabolism Reports, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.
Aquilano G et al.
Frontiers in Pediatrics, 2022
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.
Kim J et al.
Case Reports in Genetics, 2022
Genetic heterogeneity in corpus callosum agenesis.
Pânzaru MC et al.
Frontiers in Genetics, 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA et al.
Biochimie, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M et al.
Frontiers in Pediatrics, 2021
Insights into Aldehyde Dehydrogenase Enzymes: A Structural Perspective.
Shortall K et al.
Frontiers in Molecular Biosciences, 2021
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Laciak AR et al.
Journal of Inherited Metabolic Disease, 2020
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF et al.
American Journal of Human Genetics, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019