Results 51 to 60 of about 1,834 (152)

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

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

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

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

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

Decoding Dual Regulatory Layers: Integrating Differential Expression and Alternative Splicing Dynamics in the Evolution of Laryngeal Echolocation Across Chiropteran Lineages

Integrative Zoology, EarlyView.
We integrated short‐read and long‐read RNA‐seq data from cochlear tissues of echolocating and non‐echolocating bats to disentangle transcriptional and post‐transcriptional regulation. Echolocating bats showed neural‐function enrichment among differentially expressed genes, while alternatively spliced genes were linked to epigenetic regulation. Overlaps
Jianyu Wu, Daoyuan Hu, Min Chen, Xiuguang Mao   +3 more
wiley   +1 more source

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Excessive training does not induce mitochondrial dysfunction or impair insulin signalling within skeletal muscle

The Journal of Physiology, EarlyView.
Abstract figure legend Three weeks of overtraining in trained endurance athletes reduced exercise performance without impairing glucose tolerance. In skeletal muscle, overtraining was associated with increased expression of lipid metabolism‐related proteins, enhanced mitochondrial biogenesis and preserved insulin signalling, despite elevated oxidative ...
Geneviève J. DesOrmeaux, Henver S. Brunetta, Pierre‐Andre Barbeau, Alexandra M. Coates, Christopher Pignanelli, Fasih A. Rahman, Jamie F. Burr, Graham P. Holloway   +7 more
wiley   +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

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