Results 111 to 120 of about 113,968 (310)

Dravet syndrome

Italian Journal of Pediatrics, 2009
"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.
Incorpora Gemma
doaj   +1 more source

Ripple oscillations in the left temporal neocortex are associated with impaired verbal episodic memory encoding

, 2018
Background: We sought to determine if ripple oscillations (80-120Hz), detected in intracranial EEG (iEEG) recordings of epilepsy patients, correlate with an enhancement or disruption of verbal episodic memory encoding.
Berry, Brent, Camarillo-Rodriguez, Liliana, Chervenova, Inna, Das, Sandhitsu, Davis, Katheryn A., Davis, Leon A., Elahian, Bahareh, Ganne, Chaitanya, Gorniak, Richard, Gross, Robert, He, Xiao-Song, Inman, Cory S., Jobst, Barbara C., Khadjevand, Mehraneh, Kucewicz, Michal, Lega, Bradley C., Rizzuto, Daniel S., Sharan, Ashwini D., Shimamoto, Shoichi, Sperling, Michael, Stein, Joel, Tracy, Joseph, Waldman, Zachary J., Wanda, Paul, Weiss, Shennan A., Worrell, Gregory, Zaghloul, Kareem   +26 more
core   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Decoding Naturalistic Episodic Memory with Artificial Intelligence and Brain‐Machine Interface

Advanced Science, EarlyView.
Episodic memory weaves together what, where, and when of experience into a personal narrative. Cutting‐edge AI models may decode this intricate process in real‐life settings, revealing how neural activity encodes naturalistic memories. By merging AI with brain–machine interfaces, researchers are edging closer to mapping and even engineering memory ...
Dong Song
wiley   +1 more source

Potential causal association of diabetes mellitus and blood glucose related indexes with the onset of epilepsy: a two-sample Mendelian randomization study

Frontiers in Neurology
AimDiabetes mellitus (DM) may promote the occurrence of epilepsy through mechanisms, such as inflammation, immune imbalance, and cerebrovascular injury, caused by metabolic abnormalities.
Mengting Zhu, Shuying Ling
doaj   +1 more source

Management of epilepsy [PDF]

, 1989
Figures for the incidence of epilepsy in Malta are not available. The overall figure for epilepsy given by the Royal College of General Practitioners (Reid 1960) is 4.82 per 1,000 population.
Galea Debono, Anthony
core  

Distinct Biotypes of Visual Perception in Major Depressive Disorder

Advanced Science, EarlyView.
In a discover dataset (272 acute MDD patients), this work identifies a novel depression biotype characterized by impaired visual motion perception, using machine learning clustering. An independent dataset confirms the robustness of this biotype through cross‐validation and demonstrates its generalizability.
Zhuoran Cai, Xi‐Wen Hu, Yuyang Li, Zheng Lin, Yongjie Li, Yong‐Chun Cai, Tao Xu, Ke Jia, Jin‐Fang Han, Zhong‐Lin Tan, Dezhong Yao, Xue Mei Song, Sugai Liang, Georg Northoff   +13 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source