Results 61 to 70 of about 1,820 (150)

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients [PDF]

Epilepsia, 2009
SummaryPurpose:  Pyridoxine‐dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal‐onset PDS ...
Bennett, Craig L., Chen, Yingzhang, Hahn, Sihoun, Glass, Ian A., Gospe Jr, Sidney M.   +4 more
openaire   +3 more sources

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Children, 2023
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani   +5 more
doaj   +1 more source

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

Metabolic enzymes expressed by cancer cells impact the immune infiltrate

OncoImmunology, 2019
The expression of two metabolic enzymes, i.e., aldehyde dehydrogenase 7 family, member A1 (ALDH7A1) and lipase C, hepatic type (LIPC) by malignant cells, has been measured by immunohistochemical methods in non-small cell lung carcinoma (NSCLC) biopsies ...
Gautier Stoll, Margerie Kremer, Normal Bloy, Adrien Joseph, Maria Castedo, Guillaume Meurice, Christophe Klein, Lorenzo Galluzzi, Judith Michels, Guido Kroemer   +9 more
doaj   +1 more source

Efferocytosis‐Driven Polyamine Metabolism in Macrophages Enhances Cancer Stem Cell Enrichment after Chemotherapy in Ovarian Cancer

Advanced Science, EarlyView.
Chemotherapy‐induced efferocytosis drives ovarian cancer stem cell enrichment. By engulfing apoptotic cancer cells, macrophages upregulate ODC1 and produce putrescine, which elevates osteopontin (OPN) expression. Secreted OPN then activates the CD44 receptor on cancer cells, promoting stemness and chemoresistance.
Wenhan Li, Feiquan Ying, Xinkai Pang, Qiulei Wu, Guoqing Li, Lin Huang, Jiayu Xin, Xiaoli Liu, Pan Liu, Xiaohan Xu, Shuran Tan, Yumei Gao, Tong Liu, Si Sun, Xiaoman Wang, Yiping Wen, Liqiong Cai, Shi Du, Yuan Zhang, Jing Cai   +19 more
wiley   +1 more source

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

A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma

BMC Cancer, 2021
Background Lung cancer is one of the most lethal and most prevalent malignant tumors worldwide, and lung squamous cell carcinoma (LUSC) is one of the major histological subtypes.
Guichuan Huang, Jing Zhang, Ling Gong, Yi Huang, Daishun Liu   +4 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +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