Results 51 to 60 of about 1,820 (150)

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures [PDF]

Epilepsia, 2009
SummaryPyridoxine‐dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine.
STRIANO, PASQUALE, S. Battaglia, L. Giordano, G. Capovilla, F. Beccaria, E. A. Struys, G. S. Salomons, C. Jakobs   +7 more
openaire   +4 more sources

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice

Cell Reports
Lysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction.
Amritpal S Johal, Hilal H. Al-Shekaili, Muna Abedrabbo, Abisola Z. Kehinde, Morgan Towriss, Jessica C Koe, Keeley G. Hewton, Sarah B. Thomson, Annie Vogel Ciernia, Blair R. Leavitt, Seth J. Parker   +10 more
openalex   +3 more sources

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractPyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α‐aminoadipic semialdehyde and piperideine‐6‐carboxylic acid.
Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon‐Swindell, Renata C. Gallagher, Elaine Spector, Johan L.K. Van Hove   +6 more
openalex   +4 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

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   +1 more source

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

Frontiers in Neuroscience, 2023
IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao, Bin Mao, Na Lin, Na Lin, Danhua Guo, Danhua Guo, Deqin He, Deqin He, Huili Xue, Huili Xue, Lingji Chen, Lingji Chen, Qianqian He, Qianqian He, Min Zhang, Min Zhang, Meihuan Chen, Meihuan Chen, Hailong Huang, Hailong Huang, Liangpu Xu, Liangpu Xu   +21 more
doaj   +1 more source

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress [PDF]

Journal of Biological Chemistry, 2010
Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress. It is known that mutations in the human ALDH7A1 gene cause pyridoxine-dependent and folic acid-responsive seizures.
Chad Brocker, Natalie Lassen, Tia Estey, Aglaia Pappa, Miriam Cantore, Valeria V. Orlova, Triantafyllos Chavakis, K.L. Kavanagh, Udo Oppermann, Vasilis Vasiliou   +9 more
openalex   +5 more sources

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

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Molecular and Cellular Probes, 2017
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain.
Emanuele G, Coci, Luca, Codutti, Christian, Fink, Sophie, Bartsch, Gunnar, Grüning, Thomas, Lücke, Ingo, Kurth, Joachim, Riedel   +7 more
openaire   +2 more sources

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

Molecular Genetics and Metabolism Reports, 2014
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA).
Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, Carly Mutch, Melissa Carter, Eduard Struys, Lianna Kyriakopoulou   +6 more
doaj   +1 more source

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures

Scientific Reports, 2022
Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare developmental and epileptic encephalopathy (DEEs) with unknown etiology, and poor prognosis.
Haiyan Yang, Xiaofan Yang, Fang Cai, Siyi Gan, Sai Yang, Liwen Wu   +5 more
doaj   +1 more source