New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12076
Abstract: Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic semialdehyde (AASA) may contribute to frequently associated developmental delay. AASA is… read more here.
Keywords: degradation; dependent epilepsy; saccharopine pathway; degradation pathways ... See more keywords
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12184
Abstract: Certain loss‐of‐function mutations in the gene encoding the lysine catabolic enzyme aldehyde dehydrogenase 7A1 (ALDH7A1) cause pyridoxine‐dependent epilepsy (PDE). Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients,… read more here.
Keywords: pathogenic mutations; aldh7a1; dependent epilepsy; mutations targeting ... See more keywords
Pyridoxine‐Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13651
Abstract: Pyridoxine-dependent epilepsy (PDE; MIM#266100), an early-onset epileptic encephalopathy, is an autosomal recessive inborn error of pyridoxine (vitamin B6) metabolism. PDE is due to mutations in the ALDH7A1 gene (MIM*107323) on chromo-some 5q31, fi rst described… read more here.
Keywords: dependent epilepsy; congenital cataracts; pde; epilepsy ... See more keywords
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.12.005
Abstract: INTRODUCTION Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to… read more here.
Keywords: literature; new case; dependent epilepsy; case ... See more keywords
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular and cellular probes"
DOI: 10.1016/j.mcp.2016.11.002
Abstract: Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step… read more here.
Keywords: epilepsy; aldh7a1; dependent epilepsy; missense mutation ... See more keywords
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-2003-9886
Abstract: Abstract Objective To describe a new phenotype and the diagnostic workup of a vitamin-B 6 -dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5… read more here.
Keywords: dependent epilepsy; vitamin dependent; plphp; epilepsy due ... See more keywords
A case for newborn screening for pyridoxine-dependent epilepsy.
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006197
Abstract: Pyridoxine dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement and most patient achieve adequate seizure control… read more here.
Keywords: dependent epilepsy; newborn screening; pyridoxine dependent; case newborn ... See more keywords
Diagnosis of pyridoxine‐dependent epilepsy in an adult presenting with recurrent status epilepticus
Sign Up to like & getrecommendations! Published in 2019 at "Epilepsia"
DOI: 10.1111/epi.16408
Abstract: Pyridoxine‐dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs). Treatment with pyridoxine terminates seizures and prevents neurological… read more here.
Keywords: pyridoxine; epilepsy; dependent epilepsy; diagnosis pyridoxine ... See more keywords
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
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DOI: 10.1212/wnl.0000000000201222
Abstract: Background and Objectives Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of putative neurotoxic metabolites with the goal to improve… read more here.
Keywords: dependent epilepsy; pyridoxine lrts; treatment; developmental testing ... See more keywords
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2024.1355861
Abstract: Purpose Pyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures. We have explored the role of EEG in… read more here.
Keywords: effect; dependent epilepsy; pyridoxine; pyridoxine dependent ... See more keywords
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2025.1609600
Abstract: Objective To summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE). Methods Clinical data were collected from six pediatric patients with PDE treated at Linyi People’s… read more here.
Keywords: variants chinese; clinical features; dependent epilepsy; pyridoxine dependent ... See more keywords