Results 21 to 30 of about 3,724 (217)

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

Feasibility of newborn screening for pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism
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, Kristine, Woontner, Michael, Abdenur, Jose E., Chaudhari, Bimal P., Gosselin, Rachel, Kripps, Kimberly A., Thomas, Janet A., Wempe, Michael F., Gospe, Sidney M., Coughlin, Curtis R.   +9 more
openaire   +4 more sources

Pyridoxine Dependent Epilepsy with Iatrogenic Sensory Neuronopathy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1995
ABSTRACT:An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures. Within two years of onset of treatment, he developed a sensory neuropathy which did not progress over the following 16 years.
R S, McLachlan, W F, Brown
openaire   +3 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations [PDF]

Oxford Medical Case Reports, 2020
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Dowa, Yuri, Shiihara, Takashi, Akiyama, Tomoyuki, Hasegawa, Kosei, Inoue, Fumitaka, Watanabe, Mio   +5 more
openaire   +3 more sources

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +3 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

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2012
Background:Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.Case report:In 21 and 23 year-old sisters ...
Alfadhel, M., Sirrs, S., Waters, P.J., Szeitz, A., Struijs, E.A., Coulter-Mackie, M., Stockler-Ipsiroglu, S.   +6 more
openaire   +4 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

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study [PDF]

, 2023
Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants.
Ahmed Jamali, Erle Kristensen, Trine Tangeraas, Vibeke Arntsen, Alma Sikiric, Guste Kupliauskiene, Sverre Myren‐Svelstad, Siren Berland, Yngve Sejersted, Thorsten Gerstner, Bjørnar Hassel, Laurence A. Bindoff, Eylert Brodtkorb   +12 more
openalex   +4 more sources