Results 221 to 230 of about 106,832 (306)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Targeted Gene and Genome-Editing Strategies for Epilepsy: Experimental Advances and Translational Challenges. [PDF]

Int J Mol Sci
Seh BA, Rafiq K, Legradi A, Mir MY.
europepmc   +1 more source

Freedon study: Real‐life outcomes of cenobamate in different lines of treatment

Epilepsia, EarlyView.
Abstract Objectives Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods This was a multicenter, retrospective, observational study.
Vicente Villanueva, José María Serratosa, Alejandro Fernández‐Cabrera, Manuel Toledo, Beatriz González‐Giráldez, José C. Estevez, Juan Jesús Rodríguez Uranga, Maria Machio Castelló, Maria Dolores Castro‐Vilanova, Juan José Poza, Xiana Rodríguez‐Osorio, Kevin G. Hampel, Elena Fonseca, Francisco Javier López‐González, Mercedes Garcés, Laura Abraira, Jordi Ciurans, Daniel Campos‐Fernández, Estevo Santamarina, Juan María Sanchez‐Caro, Lucas Iacampo, Julia Renau, Miguel Ángel García‐Quesada, Carla Anciones, María Isabel Chamorro, Iratxe Maestro, Pablo Cabezudo, Raquel Calle, Jesús Macarron, Beatriz Cabezas, María Carrasco, María López, Marta Marín, Rosa Querol, Belén Baena, Vanessa García‐Morales, Samuel López‐Maza, Álvaro Juiz, Blanca Mercedes‐Alvarez, Carla Amarante, Ana del Villar, Ascensión Castillo, Marta Rubio‐Roy, Javier Martinez‐Poles, Asier Gómez‐Ibáñez, Beatriz Parejo‐Carbonell, Anabelén Martínez Garcia, Ignacio Carrera, Pablo Iriarte, Fátima Romero‐Aguilera, on behalf of the Pharmacological Therapy Working group of the Spanish Epilepsy Society and Freedon Group   +50 more
wiley   +1 more source

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review. [PDF]

Front Neurosci
Zhang Y, Yi Z, Zhang Y, Song Z, Yang C, Li F, Liu K, Li J, Xue J.   +8 more
europepmc   +1 more source

Functionality of symptoms and interpersonal communication in home video recordings of functional/dissociative versus epileptic seizures

Epilepsia, EarlyView.
Abstract Objective Conceptualizing functional/dissociative seizures (FDS) as resulting from dissociation, or conversion, we hypothesized that, compared to epileptic seizures (ES), FDS should carry more symbolic or communicative content and that this would allow observers to distinguish FDS from ES.
Nayrin Dissouky, Klara Kochs, Robert Daniel Nass, Tobias Baumgartner, Attila Rácz, Rainer Surges, Markus Reuber, Juri‐Alexander Witt, Christoph Helmstaedter   +8 more
wiley   +1 more source

Mechanistic Target of Rapamycin and Megalencephaly: Novel Research Strategies for Therapeutic Discovery. [PDF]

Epilepsy Curr
Pan T, Parker W, Iffland PH, Dang L, Crino PB.   +4 more
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

Depressive symptoms as independent correlates of epilepsy‐related cognitive burden

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the relationship between the severity of depression and anxiety symptoms and epilepsy‐related variables and cognitive burden in people with epilepsy (PwE), as assessed using EpiTrack. Methods We prospectively enrolled a cohort of PwE who underwent EpiTrack and evaluation by Generalized Anxiety ...
Biagio Maria Sancetta, Giuli Lippa, Marianna Nesta, Lorenzo Ricci, Simona Paola Carbone, Lorenzo Veronese, Giulia Conti, Marco Sferruzzi, Vincenzo Di Lazzaro, Mario Tombini, Giovanni Assenza   +10 more
wiley   +1 more source

The role of HG in the analysis of temporal iteration and interaural correlation [PDF]

, 2004
Barrett, DJK, Hall, DA
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