A5046645524- Epilepsy research and treatment
- EEG and Brain-Computer Interfaces
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Neuroscience and Neuropharmacology Research
- Sleep and Wakefulness Research
- Metabolism and Genetic Disorders
- Functional Brain Connectivity Studies
- Neuroscience and Neural Engineering
- Neurological disorders and treatments
- Heart Rate Variability and Autonomic Control
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Neural dynamics and brain function
- Infectious Encephalopathies and Encephalitis
- Pharmaceutical studies and practices
- Neurobiology of Language and Bilingualism
- Bacterial Infections and Vaccines
- Drug Transport and Resistance Mechanisms
- Ion channel regulation and function
- Psychosomatic Disorders and Their Treatments
- Neuroscience of respiration and sleep
- Cardiovascular Syncope and Autonomic Disorders
- Non-Invasive Vital Sign Monitoring
- Diet and metabolism studies
Boston Children's Hospital
2016-2025
Harvard University
2016-2025
Children's Hospital of Philadelphia
2013-2023
University of Pennsylvania
2013-2023
Boston University
2011-2023
University of Cincinnati Medical Center
2015-2023
Cincinnati Children's Hospital Medical Center
2015-2023
Mayo Clinic
2019-2021
Nationwide Children's Hospital
2015-2021
University of Colorado Anschutz Medical Campus
2021
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with spectrum of epilepsies and neurodevelopmental disorders. Here, we report phenotypes 71 patients review 130 previously reported patients. We found that (i) encephalopathies infantile/childhood onset (≥3 months age) occur almost as often those an early infantile (<3 months), are thus more frequent than reported; (ii) distinct can be seen within late group, including myoclonic-atonic epilepsy...
The aims of this study were to determine the etiology, clinical features, and predictors outcome new-onset refractory status epilepticus. Retrospective review patients with epilepticus without etiology identified within 48 hours admission between January 1, 2008, December 31, 2013, in 13 academic medical centers. primary measure was poor functional at discharge (defined as a score >3 on modified Rankin Scale). Of 130 cases, 67 (52%) remained cryptogenic. most common etiologies autoimmune...
Summary The special requirements for a seizure detector suitable everyday use in terms of cost, comfort, and social acceptance call alternatives to electroencephalography (EEG)–based methods. Therefore, we developed an algorithm automatic detection generalized tonic–clonic (GTC) seizures based on sympathetically mediated electrodermal activity (EDA) accelerometry measured using novel wrist‐worn biosensor. problem GTC was posed as supervised learning task which the goal classify 10‐s epochs...
Summary Purpose To examine patterns of use, efficacy, and safety intravenous ketamine for the treatment refractory status epilepticus ( RSE ). Methods Multicenter retrospective review medical records electroencephalography EEG ) reports in 10 academic centers North America Europe, including 58 subjects, representing 60 episodes that were identified between 1999 2012. Seven occurred after anoxic brain injury. Key Findings Permanent control was achieved 57% (34 60) episodes. Ketamine felt to...
<h3>Objective:</h3> Sudden unexpected death in epilepsy (SUDEP) poses a poorly understood but considerable risk to people with uncontrolled epilepsy. There is controversy regarding the significance of postictal generalized EEG suppression as biomarker for SUDEP risk, and it remains unknown whether has neurologic correlate. Here, we examined profile autonomic alterations accompanying seizures wrist-worn biosensor explored relationship between dysregulation suppression. <h3>Methods:</h3> We...
Objective Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early sustained response initial treatments addresses both clinical remission electrographic resolution hypsarrhythmia. Secondarily, it assesses whether differs by etiology or developmental status. Methods The National Spasms Consortium established multicenter, prospective database enrolling...
New devices are needed for monitoring seizures, especially those associated with sudden unexpected death in epilepsy (SUDEP). They must be unobtrusive and automated, provide false alarm rates (FARs) bearable everyday life. This study quantifies the performance of new multimodal wrist-worn convulsive seizure detectors.Hand-annotated video-electroencephalographic events were collected from 69 patients at six clinical sites. Three different wristbands used to record electrodermal activity (EDA)...
Treatment delay for seizures can lead to longer seizure duration. Whether treatment is associated with major adverse outcomes, such as death, remains unknown. To evaluate whether untimely first-line benzodiazepine unfavorable short-term outcomes. This multicenter, observational, prospective cohort study included 218 pediatric patients admitted between June 1, 2011, and July 7, 2016, into the 11 tertiary hospitals in United States within Pediatric Status Epilepticus Research Group. Patients,...
OBJECTIVES. Our goals were to determine the effect of epilepsy surgery in infants (&lt;3 years age) on development and describe factors associated with postoperative developmental outcome. METHODS. We identified 50 among 251 consecutive pediatric patients (&lt;18 old) undergoing surgery. Charts reviewed for clinical data neurodevelopmental testing Bayley Scales Infant Development. A quotient was calculated compare scores children at different ages. RESULTS. Complete available 24...
Reducing health and economic burdens from diagnostic delay of psychogenic nonepileptic seizures (PNES) requires prompt referral for video electroencephalography (VEEG) monitoring, the gold standard. Practitioners make VEEG referrals when semiology suggests PNES, although few semiological signs are supported by well-designed studies, most studies neglect to concurrently measure how accurately seizure witnesses can ascertain semiology. In this study, we estimate value eyewitness-reported...
We aimed to determine the incidence of electrographic seizures in children pediatric intensive care unit who underwent EEG monitoring, risk factors for seizures, and whether were associated with increased odds mortality.Eleven sites North America retrospectively reviewed a total 550 consecutive units monitoring. collected data on demographics, diagnoses, clinical mental status at onset, background, interictal epileptiform discharges, length stay, in-hospital mortality.Electrographic occurred...
To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center.We identified International Classification Diseases, ninth revision (ICD-9) codes for or seizures and clinical CMA performed between October 2006 February 2011 Boston Children's Hospital. We reviewed medical records included who met criteria epilepsy. phenotypically characterized epilepsy-associated on CMA.Of 973 had ICD-9 seizures, 805...
<h3>Importance</h3> Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most which proving to have genetic origins. The role testing in the initial evaluation these is not established. <h3>Objective</h3> To provide contemporary account patterns use and diagnostic yield for early-life epilepsies. <h3>Design, Setting, Participants</h3> In this prospective cohort, children with newly diagnosed epilepsy an onset at less than 3 years age were recruited from...
We present a novel method for monitoring sympathetic nervous system activity during epileptic seizures using wearable sensor measuring electrodermal (EDA). The enables long-term, continuous EDA recordings from patients. Preliminary results our pilot study suggest that induce surge in EDA. These changes are greater generalized tonic-clonic and reflect massive discharge. This paper offers new approach investigating the relationship between autonomic alterations.
We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and myoclonic encephalopathy) evaluate genotype-phenotype correlations.We enrolled 33 patients a referral diagnosis Ohtahara or encephalopathy without malformations cortical development. performed detailed phenotypic assessment including seizure presentation, electroencephalography, magnetic resonance imaging. confirmed in 28 patients. Research-based exome sequencing was...
To compare the cost-effectiveness of genetic testing strategies in patients with epilepsy unknown etiology.This meta-analysis and study compared involving 3 tests: chromosomal microarray (CMA), panel (EP) deletion/duplication testing, whole-exome sequencing (WES) a model, using "no testing" as point comparison.Twenty studies provided information on diagnostic yield CMA (8 studies), EP (9 WES (6 studies). The was highest for WES: 0.45 (95% confidence interval [CI]: 0.33-0.57) (0.32 [95% CI:...