Results 61 to 70 of about 3,184 (187)

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

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

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

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

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

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

Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers. [PDF]

, 2019
Although promoter-associated CpG islands have been established as targets of DNA methylation changes in cancer, previous studies suggest that epigenetic dysregulation outside the promoter region may be more closely associated with transcriptional changes.
Ando, Mizuo, Bui, Nam Q, Califano, Joseph A, Favorov, Alexander V, Fertig, Elana J, Fisch, Kathleen, Fukusumi, Takahito, Gaykalova, Daria A, Guo, Theresa, Ha, Patrick, Haft, Sunny, Ideker, Trey, Liu, Chao, Mark, Adam, Medetgul-Ernar, Kate, Messer, Karen, Pang, John, Pu, Minya, Ren, Shuling, Saito, Yuki, Sakai, Akihiro, Tamayo, Pablo, Xu, Guorong, Yamasoba, Tatsuya, Yegnasubramanian, Srinivasan   +24 more
core  

Combining Genome Wide Association Studies and Differential Gene Expression Data Analyses Identifies Candidate Genes Affecting Mastitis Caused by Two Different Pathogens in the Dairy Cow [PDF]

, 2015
Mastitis is a costly disease which hampers the dairy industry. Inflammation of the mammary gland is commonly caused by bacterial infection, mainly Escherichia coli, Streptococcus uberis and Staphylococcus aureus.
Chen, X, Cheng, Z R, Wathes, D C, Werling, D, Zhang, S   +4 more
core   +3 more sources

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu - Alu recombination [PDF]

Neurology, 2015
To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene.
Mefford, Heather C, Zemel, Matthew, Geraghty, Eileen, Cook, Joseph, Clayton, Peter T, Paul, Karl, Plecko, Barbara, Mills, Philippa B, Nordli, Douglas R, Gospe, Sidney M   +9 more
openaire   +2 more sources

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source