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
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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
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
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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
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures
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DOI: 10.3390/brainsci12010065
Abstract: Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ). ATQ is one of the enzymes involved in… read more here.
Keywords: antiquitin; dependent epilepsy; pyridoxine dependent; deficiency ... See more keywords
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232416061
Abstract: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are… read more here.
Keywords: novel biomarkers; dependent epilepsy; pde aldh7a1; global metabolomics ... See more keywords
Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1282_20
Abstract: Annals of Indian Academy of Neurology ¦ Volume 24 ¦ Issue 5 ¦ September-October 2021 770 Pyridoxine‐dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents with intractable seizures in the neonatal period… read more here.
Keywords: late diagnosis; dependent epilepsy; pyridoxine dependent; neurology ... See more keywords