Results 201 to 210 of about 113,968 (310)

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Pregnancy and epileptic seizures in the emergency department setting: A retrospective analysis. [PDF]

PLoS One
Simsek Y, Gur A.
europepmc   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

Epilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi, Maren Kimura, Bamby Joseph, Alina Zhao, Diane L. Lorenzetti, Dang K. Nguyen, Mark Keezer, Colin B. Josephson, Nathalie Jetté   +8 more
wiley   +1 more source

A <i>SCN1A</i> missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree. [PDF]

Front Genet
Li XL.
europepmc   +1 more source

Syndrome‐specific and familial imaging traits in juvenile absence epilepsy

Epilepsia, EarlyView.
Abstract Objective Juvenile absence epilepsy (JAE) is an idiopathic generalized epilepsy characterized by absences, generalized tonic–clonic seizures, and cognitive difficulties. In contrast to juvenile myoclonic epilepsy (JME), where distinct functional and structural brain alterations are well established, it remains unclear whether comparable ...
Fenglai Xiao, Lorenzo Caciagli, Luisa Delazer, Sjoerd Vos, Karin Trimmel, Louis Andre Van Graan, Marine Fleury, Lawrence Binding, Davide Giampiccolo, Dominic Heaney, Sanjeev Rajakulendran, Maria Centeno, Josemir W. Sander, John S. Duncan, Matthias J. Koepp, Britta Wandschneider   +15 more
wiley   +1 more source

The research progress of wearable digital health technologies in epilepsy management. [PDF]

Acta Epileptol
Zhao X, Wang T.
europepmc   +1 more source

Idiopathic Generalized Epilepsies [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1996
openaire   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Ask a Simple Question, Design an Elegant Study and the Rest is History. [PDF]

Epilepsy Curr
Strozzi I, Joshi C.
europepmc   +1 more source

Spatial transcriptomics in epilepsy research: Early successes, opportunities, and challenges

Epilepsia, EarlyView.
Donald J. Phillips, Autumn S. Ivy, Samuel Guzman, Saman Hazany, Xiangmin Xu   +4 more
wiley   +1 more source