Results 31 to 40 of about 3,724 (217)

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, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj   +2 more sources

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 Nutrition
Background: Pyridoxine-dependent epilepsy (PDE) is identified as a rare neurometabolic disease marked by biallelic pathogenic mutations of the ALDH7A1 gene.
Ali Jafari, Mohammad Mehdi Abbasi, Hamid Abbasi, Sama Rahnemayan, Farnush Bakhshimoghaddam, Saeid Doaei   +5 more
doaj   +2 more sources

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]

Genetics, 2017
AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Pena, Izabella A., Roussel, Yann, Daniel, Kate, Mongeon, Kevin, Johnstone, Devon, Weinschutz Mendes, Hellen, Bosma, Marjolein, Saxena, Vishal, Lepage, Nathalie, Chakraborty, Pranesh, Dyment, David A., van Karnebeek, Clara D. M., Verhoeven-Duif, Nanda, Bui, Tuan Vu, Boycott, Kym M., Ekker, Marc, Mackenzie, Alex   +16 more
openaire   +5 more sources

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

Mov Disord Clin Pract, 2022
Lokesh Saini, Deepthi Krishna, Pradeep Kumar Gunasekaran, Sarbesh Tiwari, Prawin Kumar   +4 more
openalex   +2 more sources

Pyridoxine-dependent epilepsy [PDF]

, 2020
Inserm
openaire   +2 more sources

Natural history of pyridoxine‐dependent epilepsy: tools for prognostication [PDF]

Developmental Medicine & Child Neurology, 2012
This commentary is on the original article by Bok et al. on pages 849‐854 of this issue.
Sídney M. Gospe
openaire   +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 Neurology
PurposePyridoxine-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, Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Laurence A. Bindoff, Trond Sand, Trond Sand, Eylert Brodtkorb, Eylert Brodtkorb   +14 more
doaj   +2 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 Reports
Pyridoxine‐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, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 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, Sudheer Moorkoth, Leslie Lewis, Pragna Rao   +3 more
doaj   +2 more sources

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]

Molecular Therapy: Nucleic Acids
Pyridoxine-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, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B. van Katwijk, Astrid Oudakker, Hilal H. Al-Shekaili, Dirk J. Lefeber, Blair R. Leavitt, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +13 more
doaj   +2 more sources