Articles with "dependent epilepsy" as a keyword



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New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency

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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
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Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy

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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
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Pyridoxine‐Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation

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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
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Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

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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
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Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

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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
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Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency

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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
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A case for newborn screening for pyridoxine-dependent epilepsy.

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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
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Diagnosis of pyridoxine‐dependent epilepsy in an adult presenting with recurrent status epilepticus

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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
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

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Published in 2022 at "Neurology"

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
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Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

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Published in 2021 at "Brain Sciences"

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
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Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

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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