Results 41 to 50 of about 1,834 (152)

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

, 2023
Abstract Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can ...
Feifei Luo, Ying Ruan, LiJun Du, Li Jiang, Ying Xiong, Hanmin Liu   +5 more
openaire   +1 more source

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
openaire   +2 more sources

Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse

Theranostics, 2021
Rationale: The activity of aldehyde dehydrogenase 7A1 (ALDH7A1), an enzyme that catalyzes the lipid peroxidation of fatty aldehydes was found to be upregulated in pancreatic ductal adenocarcinoma (PDAC). ALDH7A1 knockdown significantly reduced tumor formation in PDAC. We raised a question how ALDH7A1 contributes to cancer progression.
Lee, Jae-Seon, Lee, Ho, Woo, Sang Myung, Jang, Hyonchol, Jeon, Yoon, Kim, Hee Yeon, Song, Jaewhan, Lee, Woo Jin, Hong, Eun Kyung, Park, Sang-Jae, Han, Sung-Sik, Kim, Soo-Youl   +11 more
openaire   +2 more sources

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

Annals of Neurology, 2007
AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but ...
Salomons, G.S., Bok, L.A., Struys, E.A., Pope, L.L., Darmin, P.S., Mills, P.B., Clayton, P.T., Willemsen, M.A.A.P., Jakobs, C.   +8 more
openaire   +4 more sources

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

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

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

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

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy [PDF]

Journal of Inherited Metabolic Disease, 2018
AbstractPyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the
Curtis R. Coughlin, Michael A. Swanson, Elaine Spector, Naomi J. L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D. M. van Karnebeek, Sidney M. Gospe, Verena G. Aziz, Becky P. Tsai, Hanlin Gao, Peter L. Nagy, Keith Hyland, Silvy J. M. van Dooren, Gajja S. Salomons, Johan L. K. Van Hove   +16 more
openaire   +4 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source