Results 71 to 80 of about 19,292 (214)

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

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

Theta oscillations, epileptogenesis, and focal seizures in rodent models of mesial temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Theta oscillations (4–12 Hz) are a prominent network rhythm within hippocampal and parahippocampal structures. Driven by cholinergic and γ‐aminobutyric acidergic inputs originating from the medial septum, physiological theta gates network excitability to control spatial navigation, memory encoding, and sensorimotor integration during specific ...
Maxime Lévesque, Massimo Avoli
wiley   +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

Gambaran Faktor yang Berhubungan dengan Timbulnya Kejang Demam Berulang pada Pasien yang Berobat di Poliklinik Anak RS. DR. M. Djamil Padang Periode Januari 2010 – Desember 2012

Jurnal Kesehatan Andalas, 2016
 AbstrakKejang demam merupakan kejang paling sering pada anak yang kemungkinan berulang. Pengetahuan tentang faktor yang berhubungan dengan kejang demam berulang perlu diketahui demi ketepatan tatalaksana.
Vivit Erdina Yunita, Afdal Afdal, Iskandar Syarif   +2 more
doaj  

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

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Evaluation of Demographic and Clinical Characteristics of First Febrile Seizures in Children

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Introduction: Febrile seizure is the most common problem in pediatric neurology that occur s in 3– 4% of children. The purpose of this study was to evaluate demographic and clinical characteristics of first febrile seizures in children admitted to the ...
F Mir-Naseri, S Akhavan- Karbasi, R Fallah   +2 more
doaj  

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source