Results 201 to 210 of about 2,272,583 (371)

A companion to the preclinical common data elements for phenotyping seizures and epilepsy in rodent models. A report of the TASK3‐WG1C: Phenotyping working group of the ILAE/AES joint translational task force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy is a heterogeneous disorder characterized by spontaneous seizures and behavioral comorbidities. The underlying mechanisms of seizures and epilepsy across various syndromes lead to diverse clinical presentation and features. Similarly, animal models of epilepsy arise from numerous dissimilar inciting events.
Melissa Barker‐Haliski   +3 more
wiley   +1 more source

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

open access: yesAnnals of Neurology, EarlyView.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino   +4 more
wiley   +1 more source

Roadmap to Nanomedical Applications: Nanotoxicology and In Vitro Guidelines for Lanthanide‐Doped Luminescence Nanothermometers

open access: yesAdvanced NanoBiomed Research, EarlyView.
Lanthanide‐based luminescence nanothermometry holds multifaceted potential for nanomedical applications, yet despite significant research advances, clinical translation of the engineered nanomaterials is still controversial and widely disputed. This is related to crucial nanotoxicological aspects that must be addressed at the preclinical level ...
Simona Premcheska   +2 more
wiley   +1 more source

Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21. [PDF]

open access: yesFront Pediatr
Chen H   +10 more
europepmc   +1 more source

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload [PDF]

open access: green, 2013
Kathryn J. Swoboda   +11 more
openalex   +1 more source

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