A5012315723- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Autoimmune Neurological Disorders and Treatments
- Infectious Encephalopathies and Encephalitis
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Neuroscience and Neuropharmacology Research
- Redox biology and oxidative stress
- Endoplasmic Reticulum Stress and Disease
- Drug Transport and Resistance Mechanisms
- Complement system in diseases
- Genomics and Rare Diseases
- Peripheral Neuropathies and Disorders
- Biochemical effects in animals
- Simulation-Based Education in Healthcare
- Down syndrome and intellectual disability research
- Multiple Sclerosis Research Studies
- Advanced MRI Techniques and Applications
- Neurological disorders and treatments
- Bacterial Infections and Vaccines
- Folate and B Vitamins Research
- Alcoholism and Thiamine Deficiency
- Vasculitis and related conditions
- Sphingolipid Metabolism and Signaling
- Tuberculosis Research and Epidemiology
Boston Children's Hospital
2016-2025
Harvard University
2017-2025
Boston Children's Museum
2018-2025
Children's Hospital
2023-2025
Epilepsy Foundation
2024
Bristol-Myers Squibb (Germany)
2023
University of Virginia Health System
2023
University of Colorado Denver
2023
Children's Hospital Colorado
2023
Rady Children's Hospital-San Diego
2023
Abstract Febrile‐infection related epilepsy syndrome (FIRES) is a devastating neurological condition characterized by febrile illness preceding new onset refractory status epilepticus (NORSE). Increasing evidence suggests innate immune dysfunction as potential pathological mechanism. We report an international retrospective cohort of 25 children treated with anakinra, recombinant interleukin‐1 receptor antagonist, immunomodulator for FIRES. Anakinra was potentially safe only one child...
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, counseling. Objective To delineate the genetic landscape pediatric utility for with epilepsy. Design, Setting, Participants This cohort study used phenotypic data from medical records treating clinicians at a hospital identify unexplained pediatric-onset Exome sequencing was performed 522 available biological parents, were...
Febrile infection-related epilepsy syndrome (FIRES) is characterized by new onset refractory status epilepticus in a previously healthy child that associated with poor cognitive outcomes and chronic epilepsy. Innate immune system dysfunction hypothesized to be key etiologic contributor, potential role for immunotherapy blocking pro-inflammatory cytokines, such as interleukin-1β interleukin-6. We present case of FIRES anakinra, an interleukin-1 receptor antagonist, subsequently treated the...
Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, high rates of mortality. To suggest therapy protocol to improve outcome FIRES, workshops were held conjunction with American Epilepsy Society annual meeting between 2017 2019. An international group pediatric epileptologists, neurointensivists, rheumatologists...
Abstract Objective We aimed to characterize the clinical profile and outcomes of new onset refractory status epilepticus (NORSE) in children, investigated relationship between fever (SE). Methods Patients with SE (RSE) June 1, 2011 October 2016 were prospectively enrolled pSERG (Pediatric Status Epilepticus Research Group) cohort. Cases meeting definition NORSE classified as "NORSE known etiology" or unknown etiology." Subgroup analysis etiology was completed based on presence time...
Background Febrile-infection related epilepsy syndrome (FIRES) is a rare in which previously healthy individual develops refractory status epilepticus the setting of preceding febrile illness. There are limited data regarding detailed long-term outcomes. This study aims to describe neuropsychological outcomes series pediatric patients with FIRES. Methods retrospective multi-center case diagnosis FIRES treated acutely anakinra who had testing at least 12 months after onset. Each patient...
<h3>Objectives</h3> How brain MRI lesions associate with outcomes in pediatric anti-NMDA receptor encephalitis (pNMDARE) is unknown. In this study, we correlate T2-hyperintense clinical pNMDARE. <h3>Methods</h3> This was a multicenter retrospective cohort study from 11 institutions. Children younger than 18 years pNMDARE were included. One-year assessed by the modified Rankin Score (mRS) good (mRS ≤2) and poor ≥3) outcomes. <h3>Results</h3> A total of 175 subjects included, 1-year mRS...
Optimal acute treatment is crucial in pediatric convulsive status epilepticus (CSE). However, data on the benefits of seizure action plans (SAPs) and algorithm implementation relation to process outcome measures CSE are scarce. Our study examines adherence benzodiazepine (BZD)-responsive BZD-resistant groups specifically focuses relationship with personalized SAPs. We performed a prospective observational cohort evaluating patient care processes outcomes young patients lasting ≥5 minutes,...
We aimed to describe the acute seizure care pathway for pediatric patients and identify barriers encountered by those involved in management. also proposed interventions bridge these gaps within this pathway.We constructed a process map that illustrates at Boston Children's Hospital (BCH). The was designed from knowledge gathered unstructured interviews with experts BCH, direct observation of patient management BCH through quality improvement implemented diary findings three studies...
Magnetic resonance imaging-guided laser-induced thermal therapy (MRgLITT) is a minimally invasive surgical approach increasingly employed for precise targeted ablation of epileptogenic brain foci. Recent reports have described corpus callosotomy using MRgLITT, though its application in more extensive functional disconnections has not been documented. Here, the authors detail use achieving palliative hemispherotomy 5-year-old with medically refractory hemiclonic seizures following hemispheric...
Rasmussen encephalitis (RE) is a disorder characterized by drug-resistant seizures and progressive unihemispheric atrophy, hemiparesis, varying degrees of cognitive decline. The pathophysiology RE remains elusive, with hypotheses suggesting underlying autoimmune- T cell-mediated processes. In this case report, we describe single patient's clinical course from the first day presentation until definitive treatment for atypical at tertiary care pediatric center. patient exhibited several...
Objective Small vessel primary angiitis of the central nervous system is a rare and often severe disease characterized by system‐restricted inflammatory vasculitis on histopathology. Diagnosis requires brain biopsy for confirmation suggested prior to starting immunotherapy when feasible. However, emerging evidence suggests that other neuroinflammatory conditions may have clinical radiographic phenotype mimics small angiitis, at times with overlapping pathologic features as well. Such...