Results 11 to 20 of about 3,547 (200)

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 IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.   +16 more
europepmc   +8 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   +3 more sources

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum [PDF]

Pediatric Neurology, 2016
Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6 ...
Clara D M, van Karnebeek, Sylvia A, Tiebout, Jikkemien, Niermeijer, Bwee Tien, Poll-The, Aisha, Ghani, Curtis R, Coughlin, Johan L K, Van Hove, Jost Wigand, Richter, Hans Juergen, Christen, Renata, Gallagher, Hans, Hartmann, Sylvia, Stockler-Ipsiroglu   +11 more
exaly   +6 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   +3 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

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   +2 more sources

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, Katia Lin, Marcelo Rodrigues Masruha, Luiz Celso Pereira Vilanova   +3 more
doaj   +5 more sources

Feasibility of newborn screening for pyridoxine-dependent epilepsy. [PDF]

Mol Genet Metab
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM, Coughlin CR.   +9 more
europepmc   +3 more sources

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, Baiba Lace, Yvan Labrie, Nathalie Laflamme, Nadie Rioux, Samarth Thonta Setty, Marc‐Andre Dugas, Louise Gosselin, Arnaud Droit, Nicolas Chrestian, Serge Rivest   +10 more
doaj   +2 more sources