Results 121 to 130 of about 15,708 (241)

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum

Orphanet Journal of Rare Diseases
Objective To summarize the clinical characteristics of a cohort of nine Chinese children with GNAO1 encephalopathy and analyze their genotypes. Methods A retrospective study was conducted on nine children diagnosed with GNAO1 encephalopathy at the ...
Daoqi Mei, Yu Gu, Bingbing Zhang, Shiyue Mei, Xiaona Wang, Yuanning Ma, Jie Deng, Jihong Tang   +7 more
doaj   +1 more source

Comparative multicenter evaluation of thalamic neuromodulation for treatment‐resistant epilepsy in children

Epilepsia, EarlyView.
Abstract Objective Use of neuromodulation strategies targeting thalamic nuclei, including deep brain stimulation (DBS) and responsive neurostimulation (RNS), for treatment of pediatric drug‐resistant epilepsy (DRE) is increasing, despite limited evidence for efficacy and safety. We present the initial results from the Comparative Multicenter Evaluation
Samuel A. Tenhoeve, Nebras M. Warsi, Allison M. Ludwick, Adam C. Glaser, Marcella R. Ruppert‐Gomez, Scellig S. Stone, Megan Votoupal, Jeffrey S. Raskin, Shanique Doyle, Benjamin Kennedy, Deborah Grenard, Dominic Nistal, Hannah E. Goldstein, Jason S. Hauptman, Gavin Yoon, Kurtis I. Auguste, David D. Gonda, Alon Kashanian, Shaun D. Rodgers, Janette Coble, Jarod L. Roland, Nunthasiri Wittayanakorn, Chima O. Oluigbo, Somnath Das, Jasmine A. Thum, Carolina Gorodetsky, MyLoi Huynh, George M. Ibrahim, Robert J. Bollo   +28 more
wiley   +1 more source

Refining diagnostic boundaries and electroclinical profiles of Lennox–Gastaut syndrome through unsupervised clustering

Epilepsia, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Anna Falco, Adolfo Mazzeo, Enrico Cocchi, Maria L. Gambardella, Alessandra Morano, Michela Quintiliani, Maria Picilli, Anna T. Giallonardo, Carlo Di Bonaventura, Domenica I. Battaglia   +12 more
wiley   +1 more source

Perils and progress in epilepsy surgery utilization: Twenty‐five years later

Epilepsia, EarlyView.
Abstract More than 25 years have passed since the first randomized controlled trial (RCT) established that surgery is superior to continued anti‐seizure medication (ASM) for drug‐resistant temporal lobe epilepsy, and nearly as long since a joint practice parameter urged that appropriate surgical candidates be referred to a specialized center for ...
Dario J. Englot
wiley   +1 more source

Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations

Scientific Reports
Epilepsy is a highly prevalent neurological disorder characterized by recurrent seizures. Patients exhibit broad genetic, molecular, and clinical diversity involving mild to severe comorbidities.
Wanhao Chi, Evangelos Kiskinis
doaj   +1 more source

Outcomes of out‐of‐hospital treatment of impending tonic–clonic status epilepticus with diazepam nasal spray: A retrospective combined cohort analysis

Epilepsia, EarlyView.
Abstract Objective We assessed the timing, dosing, and effectiveness of diazepam nasal spray in a large dataset of seizures treated in the out‐of‐hospital setting, using as reference the International League Against Epilepsy criteria for tonic–clonic status epilepticus (SE) and its treatment.
John M. Stern, Leock Y. Ngo, Eric B. Segal, Danielle A. Becker, Randa G. Jarrar, Tracy A. Glauser, Jurriaan M. Peters, Emilio Perucca, Evelyn K. Shih, Enrique Carrazana, Adrian L. Rabinowicz   +10 more
wiley   +1 more source

Monthly or menstrual? A scoping review of catamenial epilepsy and non‐menstrual seizure rhythms

Epilepsia, EarlyView.
Abstract Objective Despite the reported high prevalence of catamenial epilepsy (CE), the condition remains poorly defined, with lack of consensus on what entails a menstrual‐related seizure exacerbation. Emerging evidence of multiday cycles of seizure activity, including about‐monthly cycles, present in both men and women, further confound the ...
Victoria Wong, Ewan S. Nurse, Ashley Reynolds, Mark J. Cook, Philippa J. Karoly   +4 more
wiley   +1 more source

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort

Epilepsia, EarlyView.
Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen, Abigail K. Runicles, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D. Barker, Fintan Sheerin, Juul W. Steenbruggen, Tuberous Sclerosis 2000 Study Group, John R. W. Yates, Charlotte Tye, Patrick F. Bolton   +12 more
wiley   +1 more source

Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework

Epilepsia, EarlyView.
Abstract Objective Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes.
Mohammed A. AlQahtani, Michal Stern‐Zimmer, Puneet Jain, Suvasini Sharma, Alfonso Fasano, Alexander Rotenberg, George M. Ibrahim, Carolina Gorodetsky   +7 more
wiley   +1 more source

Prediction of subsequent seizures after acute symptomatic seizures in critically ill children: A clinical–electroencephalographic model

Epilepsia, EarlyView.
Abstract Objective We aimed to determine the risk of subsequent seizure or epilepsy diagnosis after acute symptomatic seizures (ASyS) in critically ill children, evaluate whether antiseizure medication (ASM) use is associated with subsequent seizure/epilepsy diagnosis, and develop a simple Seizure/Epilepsy Risk Score to predict subsequent seizure ...
Nicholas S. Abend, France W. Fung, Darshana S. Parikh, Mark Ramos, Rui Xiao, Alexis A. Topjian   +5 more
wiley   +1 more source