Results 61 to 70 of about 28,601 (275)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Impact of levetiracetam on cognitive impairment, neuroinflammation, oxidative stress, and neuronal apoptosis caused by lipopolysaccharides in rats

Saudi Pharmaceutical Journal, 2023
Introduction: Neuroinflammation is associated with the elevation of toxic proinflammatory mediators that promote neurodegeneration and subsequently affect cognition.
Vasudevan Mani, Salem Rashed Almutairi
doaj   +1 more source

Clinical Efficacy and Cognitive and Neuropsychological Effects of Levetiracetam in Epilepsy: An Open-Label Multicenter Study

, 2011
The aim of this prospective, multicenter, open-label study was to investigate the efficacy of levetiracetam (LEV) and determine its effects on cognitive and neuropsychological function.
吳東霖;陳至全;陳大成;曾元孚;江震邦;洪靚娟;劉宏輝, WU, TONY;CHEN, CHIH-CHUAN;CHEN, TA-CHENG;TSENG, YUAN-FU;CHIANG, CHEN-BANG;HUNG, CHIN-CHUAN;LIOU, HORNG-HUEI   +1 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Clinical study of levetiracetam or oxcarbazepine monotherapy in the treatment of focal epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To compare the clinical efficacy and safety of levetiracetam and oxcarbazepine in the treatment of focal epilepsy. Methods A total of 476 patients with focal epilepsy treated at Fujian Provincial Hospital from October 2020 to October 2022 were ...
WU Meng-qian, LI Yun-fei, LIN Shou-hua, ZHANG Xu, WANG Yin-zhou, WANG Qun   +5 more
doaj   +1 more source

Extensive pharmacokinetic variability of Levetiracetam. ¿Are doctors aware? [PDF]

, 2022
Levetiracetam was presented as a drug with linear pharmacokinetics. There is currently evidence on its extensive pharmacokinetic variability in real clinical practice.
Ramos, Carmen, Ferreiros Martínez, Raquel, Toledo Heras, María Paula de, Lagares, Alfonso, de Toledo, Maria, Vieira Campos, Alba, Ferreiros-Martinez, Raquel, Ovejero-Benito, Maria C, Toledo, María de, de la Fuente, Elisa, Sobrado, Mónica, Ovejero Benito, María C., Muro, Inés, Fuente, Elisa de la, de Toledo, M Paula   +14 more
core   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Levetiracetam and Memory Loss

, 2021
Epilepsy is defined as a chronic disorder that causes a sudden rush of electrical activities in the brain. These seizures may be partial or general. While fractional annexations affect a solitary part of the brain, comprehensive seizures distress the ...
Elham Alshammari
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Sustained pharmacodynamic effects of S‐ketamine on cortical excitability and resting‐state brain activity: A randomized, placebo‐controlled trial

British Journal of Clinical Pharmacology, EarlyView.
Aims This study aimed to investigate a set of pharmacodynamic biomarkers reflecting acute, delayed and sustained central nervous system effects of S‐ketamine, used as a tool compound for rapid‐acting antidepressant activity, with the goal of informing biomarker strategies for delayed antidepressant effects.
Catherine M. K. E. de Cuba, Annika A. de Goede, Joost. C. van Mechelen, Laura G. J. M. Borghans, Liam van der Aa, Erik Olofsen, Maria J. Juachon, Robert J. Doll, Amy Gillespie, Catherine J. Harmer, Gabriël E. Jacobs, Jules A. A. C. Heuberger   +11 more
wiley   +1 more source