Results 1 to 10 of about 1,711 (154)

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 Psychiatry
BackgroundPathogenic 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, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya   +5 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, Magdalena Pająk, Renata Pająk, Justyna Paprocka   +3 more
doaj   +2 more sources

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, Sidney M. Gospe  Jr.   +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, Agnes Linnér, Agnes Linnér, Sofia Ygberg, Sofia Ygberg, Sofia Ygberg, Tommy Stödberg, Tommy Stödberg, Ewa Henckel, Ewa Henckel   +9 more
doaj   +2 more sources

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]

BMC Neurology
Background 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, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +2 more sources

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, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon   +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, M. Chaabane, M. Guirat, D. Ben Touhemi, S. Guidara, Y. Moalla, H. Kamoun, I. Ben Ayed   +7 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

High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment [PDF]

MedEdPORTAL, 2018
Introduction Treatment of seizures in the neonatal patient is urgent and time sensitive. Effective and timely treatment of this life-threatening condition is vital in preventing mortality and long-term morbidity. This simulation-based curriculum involves
Jacob Anderson, Nathan Arboleda, Vincent Calleo   +2 more
doaj   +2 more sources

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development [PDF]

Biomolecules
Pyridoxine-dependent epilepsy due to ALDH7A1 deficiency (PDE-ALDH7A1) is a rare but treatable epileptic encephalopathy caused by disruption of lysine catabolism and secondary depletion of pyridoxal-5′-phosphate (PLP).
Muna Abedrabbo, Safiya Al Yazeedi, Blair R. Leavitt, Hilal Al-Shekaili   +3 more
doaj   +2 more sources