Results 41 to 50 of about 1,711 (154)

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

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

Oxf Med 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 Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M.   +5 more
europepmc   +4 more sources

KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review

Frontiers in Neurology, 2022
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new ...
Greta Amore, Ambra Butera, Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Francesco Calì, Gabriella Di Rosa, Antonio Gennaro Nicotera   +10 more
doaj   +1 more source

Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2013
Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
doaj   +1 more source

Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series

Journal of the Pakistan Medical Association
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder. Several genes involved in Pyridoxine (B6) metabolism have been implicated in the pathogenesis of PDE, two such genes are Aldehyde Dehydrogenase 7 Family Member A1 (ALDH7A1) and ...
Ali Hyder Nazeer, Durray Shahwar Abid Khan, Prem Chand   +2 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

Stem Cell Research, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

The Turkish Journal of Pediatrics, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +1 more source

Neonatal Hypoglycemia, Lactic Acidosis, and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2012
Researchers at the University of Toronto, Canada report the case of a 13-month-old girl with neonatal hypoglycemia, lactic acidosis, and bilateral symmetrical temporal lobe hemorrhages and thalamic changes on cranial MRI.
J Gordon Millichap
doaj   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source