Results 161 to 170 of about 38,738 (216)

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Amitriptyline Induced Life-Threatening Steven-Johnson Syndrome: Case Report. [PDF]

Clin Case Rep
Dereje WM, Yalew L, Tafesse N, Getachew TG.   +3 more
europepmc   +1 more source

CYP2C19 Genotype is Associated with Citalopram Treatment Outcomes in a Real‐World Setting

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 412-419, August 2026.
CYP2C19 metabolizes various selective serotonin reuptake inhibitors (SSRIs) and genetic CYP2C19 variants are associated with SSRI tolerability and response. Yet, whether CYP2C19 variability also impacts citalopram response remained unclear. We here evaluated associations between CYP2C19 genotypes and citalopram prescription data of 11,079 patients from
Yoomi Park, Yitian Zhou, Volker M. Lauschke   +2 more
wiley   +1 more source

Modelling precise responses to anti-seizure medication using brain organoids carrying SCN2A-GoF and SCN2A-LoF mutations. [PDF]

Clin Transl Med
Yang Y, Yan Y, Cai Y, Wang X, Shao Z, Ding J.   +5 more
europepmc   +1 more source

Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 510-519, August 2026.
Genetic variation contributes substantially to interindividual and interpopulation differences in drug response, yet most pharmacogenomic studies remain biased toward European populations. Here, we systematically assessed pharmacogenomic variation across East Asians (EAS) and Europeans (EUR) using public genomic datasets and investigated the potential ...
Sihan Chen, Hongpu Chen, Shuhua Xu
wiley   +1 more source

Paroxysmal motor signs in multiple sclerosis: an illustrative videotaped case. [PDF]

Oxf Med Case Reports
Lahmam G, Sikkal A, Khattab H, Haddouali K, Bellakhdar S, El Moutawakil B, Rafai MA, El Otmani H.   +7 more
europepmc   +1 more source

Discovery of a Potent and Selective MAO‐B Inhibitor From a Donepezil‐Linked Chalcone Library With Promising Antiparkinsonian Activity

Drug Development Research, Volume 87, Issue 5, August 2026.
ABSTRACT A focused library of 19 donepezil‐linked chalcones (DLCs) was efficiently synthesised through microwave‐assisted Claisen‐Schmidt condensation and subsequently profiled for their inhibitory activities against cholinesterases (AChE and BuChE) as well as monoamine oxidases (MAO‐A and MAO‐B).
Azize Kirac‐Aydin, Bishnu Prasad Pandey, Satyajit Mohanty, Rupsa Mondal, Abanish Biswas, Ashok Kumar Pattnaik, Subodh Mondal, Vinay N. Basavanakatti, Nilüfer Bayrak, Venkatesan Jayaprakash, Hoon Kim, Amaç Fatih TuYuN   +11 more
wiley   +1 more source

Utility of Patch Testing, LTT, and HLA Genotyping in Identifying Culprit Drugs and Diagnosing Multiple Drug Hypersensitivity in Definite DRESS: A 10-Year Cohort Study. [PDF]

Clin Transl Allergy
Ünal D, Yeğit OO, Demir S, Erden B, Korkmaz P, Oğuz FS, Çınar ÇK, Temurhan S, Karabacak DE, Toprak ID, Kılınç Z, Yordam MS, Kahveci N, İğde MH, Kamacı ŞÇ, Aslan AF, Sezgin ME, Kaya E, Bölek L, Coşkun R, Olgaç M, Öztop N, Gelincik A.   +22 more
europepmc   +1 more source

Lipid‐based Nano‐delivery systems as a promising strategy for the treatment of epilepsy: Current status and challenges

Epilepsia Open, Volume 11, Issue 4, Page 1095-1110, August 2026.
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini, Arunachalam Divya, Kumar Sowndharya, Parthiban Jeevitha, Selvam Manoj, Ashiq Rahman, Athil Ahamed, Ravichandiran Abirahul, Paranthaman Subash, Sulekha Khute   +9 more
wiley   +1 more source