Results 91 to 100 of about 3,183 (188)

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

Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development

Frontiers in Psychiatry, 2019
Pyridoxine (vitamin B6)-responsive epilepsies are severe forms of epilepsy that manifest as seizures immediately after birth, sometimes in utero, sometimes months, or years after birth.
Bjørnar Hassel, Bjørnar Hassel, Ane Gretesdatter Rogne, Sigrun Hope   +3 more
doaj   +1 more source

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency [PDF]

, 2021
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation.
Abdenur, JE, Ashmore, C, Boemer, F, Bok, LA, Boyer, M, Buhas, D, Clayton, PT, Coughlin, CR, Das, A, Dekker, H, Evangeliou, A, Feillet, F, Footitt, EJ, Gospe, SM, Hartmann, H, Kara, M, Kristensen, E, Lee, J, Lilje, R, Longo, N, Lunsing, RJ, Mills, P, Papadopoulou, MT, Pearl, PL, Piazzon, F, Plecko, B, Saini, AG, Santra, S, Sjarif, DR, Stockler-Ipsiroglu, S, Striano, P, Tseng, LA, Van Hove, JLK, van Karnebeek, CDM, Verhoeven-Duif, NM, Wijburg, FA, Zuberi, SM   +36 more
core  

Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine [PDF]

Annals of Child Neurology, 2019
In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians ...
Ara Ko, Hoon-Chul Kang
doaj   +1 more source

Genome annotation for clinical genomic diagnostics: strengths and weaknesses [PDF]

, 2017
The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing.
Frankish, A, Harrow, J, Minassian, BA, Parker, APJ, Sisodiya, SM, Steward, CA   +5 more
core   +1 more source

Complementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post‐Calving Ketosis

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background The muscle tissue of dairy cows is a site of β‐hydroxybutyrate (BHBA) metabolism. The mechanisms underlying the changes in proteins and metabolites in the muscle tissue of cows with ketosis remain unclear. Objectives To elucidate the metabolic and physiological molecular adaptation mechanisms in the muscle tissue of cows with ...
Tao Tang, Jing Zhou, Jiahao Shao, Meigui Wang, Siqi Xia, Wenqiang Sun, Xianbo Jia, Jie Wang, Songjia Lai   +8 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +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

ARC‐18 Improved Motor Performance Through Inhibiting ACLY‐Mediated Smad2/3 Acetylation in a Model of Duchenne Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness, with inflammation and fibrosis contributing to its pathogenesis. Despite advancements in genetic disease‐modifying treatment, there is currently no effective pharmacological treatment for DMD.
Chongyang Chen, Bingge Zhang, Chao Yang, Jing Wang, Ye He, Haitao Yu, Jianjun Liu, Yongmei Xie, Xifei Yang, Gong‐Ping Liu   +9 more
wiley   +1 more source

Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]

, 2015
Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core   +1 more source