A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy [PDF]
JIMD Reports, 2021 Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to ...
Maitou Pal +10 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 Crowther LM +7 more
europepmc +3 more sources
Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]
Mov Disord Clin Pract, 2023 Saini L +4 more
europepmc +3 more sources
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study [PDF]
Frontiers in NeurologyPurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen +14 more
doaj +2 more sources
Pyridoxine dependent epilepsies: new therapeutical point of view [PDF]
Italian Journal of Pediatrics, 2017 Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of ...
Raffaele Falsaperla, Giovanni Corsello
openalex +6 more sources
Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines [PDF]
JIMD ReportsPyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon +7 more
doaj +2 more sources
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]
Molecular Therapy: Nucleic AcidsPyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism caused by bi-allelic variants in ALDH7A1. This enzyme deficiency leads to accumulation of neurotoxic metabolites, pyridoxal-phosphate inactivation, and ...
Imke M.E. Schuurmans +13 more
doaj +2 more sources
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 +2 more sources
Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency [PDF]
Clinical Case ReportsPyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi +3 more
doaj +2 more sources