Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS [PDF]
International Journal of Analytical Chemistry, 2018 Pyridoxine dependent epilepsy is a condition where the affected infant or child has prolonged seizures (status epilepticus), which are nonresponsive to anticonvulsant therapy but can be treated with pharmacological doses of pyridoxine.
Elizabeth Mary Mathew +3 more
doaj +3 more sources
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
doaj +2 more sources
ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj +2 more sources
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature [PDF]
The Turkish Journal of Pediatrics, 2015 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert +4 more
doaj +4 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
doaj +2 more sources
Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2013 Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
doaj +2 more sources
A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus [PDF]
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça +3 more
doaj +2 more sources
The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia [PDF]
The Turkish Journal of Pediatrics, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin +4 more
doaj +2 more sources
First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]
Vojnosanitetski Pregled, 2017 Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M. +3 more
doaj +2 more sources
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. [PDF]
J Inherit Metab Dis, 2023 AIM Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase ), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6 -dependent epilepsy (PDE-ALDH7A1).
Crowther LM +7 more
europepmc +5 more sources