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
Does deep brain stimulation of the anterior nucleus of the thalamus represent the future of Lennox-Gastaut syndrome? [PDF]
Poulen G+5 more
europepmc +1 more source
Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship
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
Predictive model for initial response to first-line treatment in children with infantile epileptic spasms syndrome. [PDF]
Ge W, Wan L, Wang Z, Fu L, Yang G.
europepmc +1 more source
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]
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]
Kathryn J. Swoboda+11 more
openalex +1 more source
Merritt-Putnam Symposium | Developmental and Epileptic Encephalopathies-Current Concepts and Novel Approaches. [PDF]
Scott RC+4 more
europepmc +1 more source
Case Report: White-Sutton syndrome and cannabidiol, an update on a reported patient with a successful response to off--label therapy. [PDF]
Perilli L+6 more
europepmc +1 more source
Lennox‐Gastaut syndrome may be a curable, reversible epileptic encephalopathy [PDF]
Yu‐Tze Ng+2 more
openalex +1 more source