Results 181 to 190 of about 197,779 (358)

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

Epilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee   +10 more
wiley   +1 more source

Trans-synaptic molecular context of NMDA receptor nanodomains. [PDF]

Nat Commun
Anderson MC, Dharmasri PA, Damenti M, Metzbower SR, Laghaei R, Blanpied TA, Levy AD.   +6 more
europepmc   +1 more source

Shank, a Novel Family of Postsynaptic Density Proteins that Binds to the NMDA Receptor/PSD-95/GKAP Complex and Cortactin [PDF]

, 1999
Scott Naisbitt, Eunjoon Kim, Jian Cheng Tu, Bo Xiao, Carlo Sala, Juli G. Valtschanoff, Richard J. Weinberg, Paul F. Worley, Morgan Sheng   +8 more
openalex   +1 more source

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

Epilepsia, EarlyView.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire, Marco de Curtis, Jeffrey Noebels, Gilles Huberfeld, Piotr Suffczynski, Vadym Gnatkovsky, Olga Tyurikova, Dominique Durand, David C. Henshall, Cian McCafferty   +9 more
wiley   +1 more source

Anti-NMDA Receptor Encephalitis: A Narrative Review. [PDF]

Brain Sci
Pădureanu V, Dop D, Pădureanu R, Pîrșcoveanu DFV, Olaru G, Streata I, Bugă AM.   +6 more
europepmc   +1 more source

Topiramate for the treatment of neonatal seizures and beyond

Epilepsia, EarlyView.
Abstract Acute symptomatic neonatal seizures are one of the most common neurological disorders in newborns admitted to neonatal intensive care units and require prompt treatment. Up to 50% of neonatal seizures are refractory to first‐line medications such as phenobarbital (PB), and another 30% fail second‐line therapy.
Wolfgang Löscher, Janet S. Soul
wiley   +1 more source

Experimentally Constrained Mechanistic and Data-Driven Models for Simulating NMDA Receptor Dynamics. [PDF]

Biomedicines
Pham DJ, Bouteiller JC.
europepmc   +1 more source

Evidence for more than one type of non‐NMDA receptor in outside‐out patches from cerebellar granule cells of the rat.

, 1993
David J. A. Wyllie, Stephen F. Traynelis, Stuart Cull-Candy   +2 more
openalex   +2 more sources

Drug discovery and preclinical testing of drug candidates for developmental and epileptic encephalopathies

Epilepsia, EarlyView.
Abstract Drug development for developmental and epileptic encephalopathies (DEEs) follows different strategies on one hand including disease‐targeting precision medicine approaches considering the genetic variants and pathomechanisms in DEEs and on the other hand including therapeutic approaches with novel targets or second‐generation drug candidates ...
Heidrun Potschka, Daniel Pérez‐Pérez
wiley   +1 more source

A causal role of the NMDA receptor in recurrent processing during perceptual integration. [PDF]

Elife
Noorman S, Stein T, Zantvoord J, Fahrenfort J, van Gaal S.   +4 more
europepmc   +1 more source