Results 131 to 140 of about 15,708 (241)

Incidence and impact of respiratory tract infections on outcomes in patients with status epilepticus: A 20‐year longitudinal observation

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to identify the incidence of respiratory tract infections (RTIs) in a large cohort of adult patients with status epilepticus (SE) and to characterize their associations with clinical features and outcome determinants.
Sebastian Berger, Sira M. Baumann, Urs Fisch, Lisa Hert, Pascale Grzonka, Sabina Hunziker, Stephan Rüegg, Sarah Tschudin‐Sutter, Raoul Sutter   +8 more
wiley   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio, 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, Ingrid E. Scheffer   +15 more
wiley   +1 more source

Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy. [PDF]

CNS Neurosci Ther
Pan Z, Yang L, Tang H, Chen C, Yang Q, Wu T, He F, Zhang Z, Liu F, Peng J.   +9 more
europepmc   +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

A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces. [PDF]

Hum Mutat
Wu T, He F, Ni X, Yin F, Peng J.
europepmc   +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

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy. [PDF]

Dev Med Child Neurol
Maclaine G, Potashman MH, Pawar D, Sharma S, Rudell K, Lerner J, Coric V, Berg AT, Millichap J, L'Italien G.   +9 more
europepmc   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy. [PDF]

Epilepsia
Licchetta L, Bruschi G, Giangregorio T, Stipa C, Mannini E, Minardi R, Mostacci B, Tontini V, Pippucci T, Bisulli F, Magini P.   +10 more
europepmc   +1 more source