Epilepsy and hydrocephalus: Should pyridoxine-dependent epilepsy cross our minds?
Annals of Indian Academy of Neurology, 2020 Shivan Kesavan +4 more
doaj +4 more sources
Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures [PDF]
Brain Sciences, 2021 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).
Konrad Kaminiów +3 more
doaj +2 more sources
Pediatric Neurology Briefs, 1992 Four children with pyridoxine dependent seizures beginning at 2 to 19 months are reported from the Loyola University Medical Center, Maywood, IL.
J Gordon Millichap
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Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research [PDF]
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +2 more sources
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse [PDF]
Frontiers in Pediatrics, 2022 Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration.
Giulia Aquilano +9 more
doaj +2 more sources
Glutamate in Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 1994 Cerebrospinal fluid levels of glutamate, g-aminobutyric acid, and pyridoxal-5-phosphate examined in a patient with pyridoxine dependency while on and off vitamin B6 treatment are reported from Universitat Munchen, and Universitats-Nervenklinik, Wurzburg,
J Gordon Millichap
doaj +3 more sources
Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]
BMC NeurologyBackground Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber +5 more
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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine [PDF]
Case Reports in Genetics, 2022 Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1.
Jiyoung Kim +4 more
doaj +2 more sources
The psychological impact on parents of children with pyridoxine-dependent epilepsy [PDF]
European Psychiatry, 2023 Introduction Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease usually associated with neonatal seizures that are sensitive to pyridoxine (vitamin B6).
I. Boujelbene +7 more
doaj +2 more sources
A case for newborn screening for pyridoxine-dependent epilepsy. [PDF]
Cold Spring Harb Mol Case Stud, 2022 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 with pyridoxine alone.
Coughlin CR +2 more
europepmc +5 more sources