Results 271 to 280 of about 351,102 (361)

Metformin-induced encephalopathy in a peritoneal dialysis patient: the critical role of hemodialysis in reversing lentiform fork sign: a case report. [PDF]

BMC Neurol
Ma H, Li X, Cheng X, Gao L, Zhi J, Feng L, Jiao S.   +6 more
europepmc   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Severe hypoglycemic coma with radiological evidence of hypoglycemic encephalopathy due to impaired awareness to hypoglycemia: a case report. [PDF]

Front Med (Lausanne)
Aloriney AM.
europepmc   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Pediatric infection-triggered encephalopathy syndromes: a <i>multidimensional</i> biomarker analysis. [PDF]

Front Neurol
Ma C, Wang S, Gao Z, Wang Z, Jiao H, Zhang Y, Miao S, Liu Z, Zhang J.   +8 more
europepmc   +1 more source

Quantitative electroencephalographic measures during postmalarial epileptogenesis

Epilepsia, EarlyView.
Abstract Objective Severe malaria with neurologic involvement contributes significantly to the global burden of acquired pediatric epilepsy. We studied quantitative electroencephalographic (EEG) measures in postmalarial epileptogenesis. Methods A total of 186 patients, aged 6 months to 11 years, with confirmed central nervous system malaria were ...
Rasesh B. Joshi, Suzanna Mwanza, Hitten P. Zaveri, Joseph Kasolo, Angela Masempela, Thelma Musakanya, Tina Mwale, Violet Nambeye, Rosemary Nyriongo, Ruth A. Tembo, Christopher Cortina, Bo Zhang, Gretchen L. Birbeck, Alexander Rotenberg, Archana A. Patel   +14 more
wiley   +1 more source

Clinical Outcomes and Non-Invasive Testing in Metabolic Dysfunction-Associated Steatohepatitis With Cirrhosis: A Systematic Review. [PDF]

Liver Int
Hagström H, Hellmund C, Lazarus JV, Ota R, Rinella ME, Sebastiani G, Tefos F, Younossi ZM, Noureddin M.   +8 more
europepmc   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Life-Threatening SARS-CoV-2-Associated Encephalopathy and Multiorgan Failure in Children, Asia and Oceania, 2022-2024. [PDF]

Emerg Infect Dis
Kasai M, Sakuma H, Suzuki M, Nishiyama M, Kawata N, Lin JJ, Lin KL, Han V, Mohammad SS, Dale RC, Thomas T, Muramatsu K, Mitani O, Kobayashi Y, Ishida K, Abe Y, Kuki I, Takanashi JI.   +17 more
europepmc   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source