A5045741880- Epilepsy research and treatment
- Sleep and Wakefulness Research
- Sleep and related disorders
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Neuroscience of respiration and sleep
- Obstructive Sleep Apnea Research
- EEG and Brain-Computer Interfaces
- Genetics and Neurodevelopmental Disorders
- Restless Legs Syndrome Research
- Neonatal and fetal brain pathology
- Child Nutrition and Feeding Issues
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Hemoglobinopathies and Related Disorders
- Autism Spectrum Disorder Research
- Cardiovascular Syncope and Autonomic Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Circadian rhythm and melatonin
- Attention Deficit Hyperactivity Disorder
- Family and Disability Support Research
- Neurological and metabolic disorders
- Migraine and Headache Studies
Cohen Children's Medical Center
2018-2025
Northwell Health
2018-2024
Hofstra University
2018-2023
Boston Children's Hospital
2008-2022
Harvard University
1998-2022
Feinstein Institute for Medical Research
2022
Donald & Barbara Zucker School of Medicine at Hofstra/Northwell
2019-2022
Long Island Jewish Medical Center
2022
Children's Hospital & Medical Center
2022
NYU Langone Health
2012-2021
<h3>Background:</h3> Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. <h3>Patients:</h3> DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative hybridisation (CGH) testing Children’s Hospital Boston and 1441 individuals autism 751 families in the Autism Genetic Resource Exchange (AGRE)...
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...
Summary Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI child whose healthy parents were consanguineous. used array comparative genomic hybridization (CGH) copy number variants genome‐wide and long‐range polymerase chain reaction further delineate the breakpoints deletion found by CGH. The proband had inherited homozygous chromosome 20p13, disrupting promoter region...
To identify a genetic cause for migrating partial seizures in infancy (MPSI).We characterized consanguineous pedigree with MPSI and obtained DNA from affected unaffected family members. We analyzed single nucleotide polymorphism 500K data to regions evidence of linkage. performed whole exome sequencing homozygous variants linkage candidate gene functional studies the SLC25A22.In 2 individuals MPSI, we identified linkage, chromosome 4p16.1-p16.3 11p15.4-pter. Using sequencing, 8 novel genes...
Memory consolidation is hypothesized to involve the distribution and restructuring of memory representations across hippocampal cortical regions. Theories suggest that, through extended hippocampal–cortical interactions, ensembles come represent more integrated, or overlapping, traces that prioritize commonalities related memories. Sleep processes, particularly fast sleep spindles, are thought support consolidation, but evidence for this relationship has been mostly limited retention...
PurposeTo assess the impact of fenfluramine (FFA) on expected mortality incidence, including sudden unexpected death in epilepsy (SUDEP), persons with Dravet syndrome (DS).MethodsIn this pooled analysis, total time exposure for DS who were treated FFA phase 3 clinical trials, United States and European Early Access Programs, two long-term open-label observational studies Belgium was calculated. Literature searched reports SUDEP DS, which utilized as a comparison. Mortality rates expressed...
To describe our experience with acute disseminated encephalomyelitis (ADEM), focusing on (1) the relationship between clinical course and MRI findings (2) response to plasmapheresis in a subgroup of patients.A retrospective record review was conducted 13 children who were admitted as inpatients diagnosis ADEM during period 1998-2003.Diagnosis established by signs symptoms, cerebrospinal fluid changes multifocal involvement deep gray white matter based MRI. Initial therapy high-dose...
Sleep bruxism is an involuntary mandibular movement with tooth grinding during sleep. The prevalence of sleep in children high and may lead to frequent arousals altered daytime functioning. We investigated the architecture, incidence gastroesophageal reflux, cognitive behavioral functioning a group bruxism. DESIGN-PATIENTS: This prospective pilot study included 10 children. Polysomnographic data pH-probe analysis was compared age- sex-matched controls. Each patient completed dental...
Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by lack of expression the maternal copy UBE3A . Although “classic” features AS are well described, few large‐scale studies have delineated clinical in AS. We present baseline data from 92 children with molecular diagnosis between 5 and 60 months old who enrolled National Institutes Health Rare Diseases Clinical Research Network Syndrome Natural History Study January 2006 to March 2008. Seventy‐four percent participants...
In patients with epilepsy, improvement in seizure control treatment of coexisting obstructive sleep apnea (OSA) has been reported, but there is lack data on the effect continuous positive airway pressure (CPAP) compliance these patients. We examined variability frequency who were CPAP compliant and those not compliant. undertook a retrospective review clinical polysomnographic adult OSA epilepsy seen at Boston University Medical Center Epilepsy Sleep Clinics between 2000 2010. Data reviewed...
To evaluate the relationship of sleep/wake and day/night pattern to various seizure subtypes epilepsy localizations.Charts 380 consecutive pediatric patients with undergoing video-EEG (V-EEG) over 2 years were reviewed for semiology, EEG localization, occurrence during day (6 am-6 pm) or night, wakefulness sleep, 3-hour time blocks throughout 24 hours, localizations, etiology.A total 1,008 seizures analyzed in 225 children (mean age 8.5 ± 5.7 years). Sleep predicted semiology localization...
Summary The aim of this study was to investigate two new scoring algorithms employing artificial neural networks and decision trees for distinguishing sleep wake states in infants using actigraphy validate compare the performance proposed with known algorithms. employed previously recorded longitudinal physiological infant data set from Collaborative Home Infant Monitoring Evaluation (CHIME) conducted between 1994 1998 [ ; Sleep 26 (1997) 553 ] at five clinical sites around USA. original...
The terms "electrical status epilepticus during sleep (ESES)" and "continuous spikes waves (CSWS)" have been used interchangeably when referring to related but different concepts. In addition, the quantification of epileptiform activity has not standardized, approaches used. aim this study was evaluate extent which pediatric neurologists epileptologists use a homogeneous terminology conceptualization in CSWS ESES characterize current understanding these conditions.
Summary Objective Patients with tuberous sclerosis complex ( TSC ) commonly present significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the 2 mutation genotype may be associated a more severe disease phenotype. This study evaluates association of 1 patient characteristics in retrospective review large N atural H istory D atabase consisting 919 patients . Methods Univariate logistic regression was conducted to evaluate gene...
Increased severity of problematic daytime behavior has been associated with poorer sleep quality in individuals autism spectrum disorder. In this work, we investigate whether relationship holds a real‐time setting, such that an individual's prior can be used to predict their subsequent behavior. We analyzed extensive real‐world dataset containing over 20,000 nightly observations matched challenging behaviors (aggression, self‐injury, tantrums, property destruction and index) across 67...