Results 11 to 20 of about 47,218 (298)
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023 Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani +10 more
wiley +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
EXCLI Journal : Experimental and Clinical Sciences, 2023 Agonists of Benzodiazepine (BZD) receptor are exhaustively used in the control of muscle spasms, seizure, anxiety, and insomnia. BZDs have some unwanted effects; therefore, the development of new BZD receptor agonists with better efficacy and fewer ...
Elham Rezaee +7 more
doaj +1 more source
Patient Safety, 2021 Medication reconciliation broadly defined includes both formal and informal processes that involve the comprehensive evaluation of a patient’s medications during each transition of care and change in therapy.
Amy Harper +2 more
doaj +1 more source
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Considering the complications related to alcohol withdrawal syndrome (AWS) such as seizure, delirium tremens and cardiac arrhythmia, it is important to identify the risk of delirium tremens (DT) following AWS and enhance preventive strategies. We observed the characteristics of quantitative electroencephalography in patients with AWS, specifically who ...
Jee‐Eun Yoon +3 more
wiley +1 more source
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Purpose Our purpose was to explore the relationship between cognitive impairment and neural network changes in patients newly diagnosed with self‐limited epilepsy with centrotemporal spikes (SeLECTS). Methods The Wechsler Intelligence Scale for Children, fourth edition was used to divide all SeLECTS patients into two groups: patients with full‐
Yihan Li +7 more
wiley +1 more source
Molecules, 2015 A novel series of benzenesulfonamide derivatives containing 4-aminobenzenesul-fonamide and α-amides branched valproic acid or 2,2-dimethylcyclopropanecarboxylic acid moieties were synthesized and screened for their anticonvulsant activities in mice ...
Zhiming Wang +5 more
doaj +1 more source
Scientia Pharmaceutica, 2023 Mental and neurological disorders are conditions that affect thoughts, emotions, behavior, and relationships. Malpighia mexicana A. Juss. is a plant used in Mexican traditional medicine for the treatment of such disorders.
Dante Avilés-Montes +11 more
doaj +1 more source
Epilepsia Open, 2019 Objective The lamotrigine‐resistant amygdala kindling model uses repeated administration of a low dose of lamotrigine during the kindling process to produce resistance to lamotrigine, which also extends to some other antiseizure drugs (ASDs).
Cameron S. Metcalf +5 more
doaj +1 more source
Salvinorin A Does Not Affect Seizure Threshold in Mice
Molecules, 2020 The κ-opioid receptor has recently gained attention as a new molecular target in the treatment of many psychiatric and neurological disorders including epilepsy.
Katarzyna Socała +2 more
doaj +1 more source