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
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Glutamate in Pyridoxine-Dependent Epilepsy [PDF]
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
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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
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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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Pyridoxine-Dependent Epilepsy and Pipecolic Acid
Pediatric Neurology Briefs, 2000 Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria.
J Gordon Millichap
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Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine.
Jaime Lin +3 more
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Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]
Frontiers in NeurologyObjectiveTo summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE).MethodsClinical data were collected from six pediatric patients with PDE treated at Linyi People’s Hospital
Xixi Yu +5 more
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Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review [PDF]
Current Developments in NutritionBackground: Pyridoxine-dependent epilepsy (PDE) is identified as a rare neurometabolic disease marked by biallelic pathogenic mutations of the ALDH7A1 gene.
Ali Jafari +5 more
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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 +7 more sources
Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings [PDF]
Frontiers in PsychiatryBackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to ...
Mustafa A. Salih +5 more
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