Results 131 to 140 of about 33,104 (203)

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi, Simone Brusco, Serena Gea Giannelli, Vania Broccoli, Gaia Colasante   +4 more
wiley   +1 more source

Disrupted topological organization of structural brain networks in childhood absence epilepsy. [PDF]

Sci Rep, 2017
Qiu W, Yu C, Gao Y, Miao A, Tang L, Huang S, Jiang W, Sun J, Xiang J, Wang X.   +9 more
europepmc   +1 more source

Theory of mind: A cognitive endophenotype of juvenile myoclonic epilepsy?

Epilepsia, EarlyView.
Abstract Objective Juvenile myoclonic epilepsy (JME), the most common idiopathic generalized epilepsy, is associated with neuropsychological and psychiatric comorbidities, including social cognition and theory of mind (ToM) deficits. The interplay between clinical features, social cognition, and their neural and genetic substrates remains poorly ...
Bernardo Crespo‐Pimentel, Lucas J. Rainer, Mario Braun, Martin Kronbichler, Patrick Langthaler, Lisa Kronbichler, Sarah Said‐Yürekli, Laura Zamarian, Hennric Jokeit, Kornelius Winds, Elias Legat, Eugen Trinka, Julia Höfler, Giorgi Kuchukhidze   +13 more
wiley   +1 more source

Feasibility of a Mobile Cognitive Intervention in Childhood Absence Epilepsy. [PDF]

Front Hum Neurosci, 2016
Glynn P, Eom S, Zelko F, Koh S.
europepmc   +1 more source

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano, William D. James, Mark P. Fitzgerald, Allison Watson, Angela Peron, Antonio Gil‐Nagel, Kenneth A. Myers, Kentaro Tokumoto, Lieven Lagae, Nancy B. Spinner, Rhys H. Thomas, Rudolf R. Roth, Sarah Woodson, Tim Buckinx, Yushi Inoue, John S. Barbieri   +15 more
wiley   +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal   +17 more
wiley   +1 more source

Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy. [PDF]

J Clin Neurol, 2016
Kim HR, Kim GH, Eun SH, Eun BL, Byeon JH.   +4 more
europepmc   +1 more source

Multimodal modeling of the ictal onset zone in refractory insular epilepsy and seizure outcome of magnetic resonance‐guided laser interstitial therapy: A pediatric single‐center retrospective study

Epilepsia, EarlyView.
AbstractObjectiveThis study was undertaken to evaluate seizure outcomes after magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) in children with insular epilepsy and to assess how the extent of ablation overlaps with multimodal definitions of the ictal onset zone (IOZ).MethodsWe conducted a retrospective, single‐center study ...
Lelio Guida, Emma Losito, Sebastian Rodrigo, Catherine Chiron, Ludovic Fillon, Marie Bourgeois, Anna Kaminska, Johan Pallud, Nicole Chemaly, Volodia Dangouloff‐Ross, Stephane Aunvin, Blandine Dozieres, Rima Nabbout, Olivier David, Nathalie Boddaert, Thomas Blauwblomme   +15 more
wiley   +1 more source

Transcriptomic analysis reveals distinct expression patterns in focal cortical dysplasia

Epilepsia, EarlyView.
Abstract Objective Focal cortical dysplasia (FCD) is a common cause of drug‐resistant epilepsy in children and adults and exhibits substantial clinical and histopathological heterogeneity. However, morphological classification alone does not fully explain variability in epileptogenicity, disease severity, or treatment response.
Shivani Sonawane, Michal Hendrych, Michaela Ručková, Robin Jugas, Jan Vrbský, Martin Pail, Barbora Straka, Martina Strnadová, Lenka Krsková, Adam Vácha, Miroslav Koblížek, Barbora Splítková, Kateřina Koželková, Eliška Hloušková, Tereza Vaňková, Josef Zámečník, Štefánia Aulická, Markéta Hermanová, Pavel Kršek, Ondřej Slabý, Milan Brázdil   +20 more
wiley   +1 more source

Reply to: Does the generalized paroxysmal fast activity‐underrepresented cluster represent Lennox–Gastaut syndrome or other severe developmental and epileptic encephalopathies?

Epilepsia, EarlyView.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Adolfo Mazzeo, Carlo Di Bonaventura, Domenica I. Battaglia   +5 more
wiley   +1 more source