Results 201 to 210 of about 235,104 (268)

Response to Ng et al. on “Stimulus‐induced arousal with transient electroencephalographic improvement distinguishes nonictal from ictal generalized periodic discharges”

Epilepsia, EarlyView.
Philippe Gélisse, William O. Tatum, Arielle Crespel, Peter W. Kaplan   +3 more
wiley   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition

Epilepsia, EarlyView.
Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga, Mercedes Pérez‐Fernández, Yuniesky Andrade‐Talavera, Benito Domínguez‐Velasco, Antonio Rodríguez‐Moreno, Manuel Álvarez‐Dolado   +5 more
wiley   +1 more source

Sodium Valproate-Induced Encephalopathy: A Case Report. [PDF]

Cureus
Viswanathan S, Fatima SA, Moshfeqa P, Shaykhon N, Lohana N, Bhan C.   +5 more
europepmc   +1 more source

Characterizing sleep disturbances in developmental and epileptic encephalopathies through natural language processing: A retrospective monocentric study

Epilepsia, EarlyView.
Abstract Objective Sleep disorders are frequent but undercharacterized comorbidities in developmental and epileptic encephalopathies (DEEs). We aimed to estimate the frequency, spectrum, and burden of sleep disturbances across genetic DEE subtypes using real‐world data extracted from electronic health records (EHRs) through natural language processing (
Tommaso Lo Barco, Maxime Douillet, Nicole Chemaly, Audrey Duval, Gianluca D'onofrio, Nicolas Garcelon, Xiaoyi Chen, Rima Nabbout   +7 more
wiley   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Electroacupuncture for Menstrual-Related Migraine: Protocol for a Multicenter Single-Blinded Randomized Controlled Trial

Pain Research and Management
Shihan Jiang, Qing Ye, Sichun Gu, Qiang Li, Qi Jin, Zhicheng Guo, Ping Yin, Lumin Liu   +7 more
doaj   +1 more source

Retrospective evaluation of predictors and clinical impact of postoperative delirium in liver transplant recipients. [PDF]

Medicine (Baltimore)
Long C, Lin H, Wan QQ.
europepmc   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source