Results 251 to 260 of about 599,916 (304)

From triggers to ictal events: A video case series of reflex seizures

Epileptic Disorders, EarlyView.
Laure Salmon, Nicolas Nguyen, Dang Khoa Nguyen, Olivier Aron   +3 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

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

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

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

Evolution from reflex myoclonic epilepsy of infancy to childhood absence epilepsy in NRXN1‐related disorder

Epileptic Disorders, EarlyView.
Shanine Kamgang, Kenneth A. Myers
wiley   +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

Persistence of electroclinical findings in an adult patient with SETD1B‐related epilepsy

Epileptic Disorders, EarlyView.
Rohan Shankar, Abdulrahman Bukhari, Irfan S. Sheikh   +2 more
wiley   +1 more source

Resective epilepsy surgery in an adult with ARID1B‐related disorder and focal cortical dysplasia type IIb

Epileptic Disorders, EarlyView.
Émile Moura Coelho da Silva, Ibrahim Lafi, David Rodriguez‐Buritica, Jessica Johnson, Nitin Tandon, Samden Lhatoo   +5 more
wiley   +1 more source

Surviving to Thriving: A Grounded Theory of Post-Diagnostic Identity Reconstruction in Midlife and Older Autistic Adults. [PDF]

Autism
Kirton JA, Tod A, Ryan T.
europepmc   +1 more source