A5008177310- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Neonatal and fetal brain pathology
- Infectious Encephalopathies and Encephalitis
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Neuroscience and Neuropharmacology Research
- EEG and Brain-Computer Interfaces
- Functional Brain Connectivity Studies
- Neuroscience of respiration and sleep
- Multiple Sclerosis Research Studies
- Diet and metabolism studies
- Bacterial Infections and Vaccines
- Neural dynamics and brain function
- Neonatal Respiratory Health Research
- Hemoglobinopathies and Related Disorders
- Metabolism and Genetic Disorders
- Herpesvirus Infections and Treatments
- Pharmaceutical studies and practices
- Single-cell and spatial transcriptomics
- Sarcoidosis and Beryllium Toxicity Research
- Fetal and Pediatric Neurological Disorders
University of California, San Diego
2013-2025
Rady Children's Hospital-San Diego
2011-2025
Mount Sinai Beth Israel
2018
Bronson Methodist Hospital
2018
Charleston Area Medical Center
2018
Research Network (United States)
2010-2011
Cornell University
2004
Vanderbilt University Medical Center
2004
Cleveland Clinic
2004
Beth Israel Deaconess Medical Center
2004
Background: Acute disseminated encephalomyelitis (ADEM) is a central nervous system demyelinating disease that usually follows an apparently benign infection in otherwise healthy young persons. The epidemiology, infectious antecedents and pathogenesis of ADEM are poorly characterized, some patients subsequently diagnosed with multiple sclerosis (MS). Methods: We retrospectively (1991–1998) prospectively (1998–2000) studied all persons aged < 20 years from the 3 principal pediatric hospitals...
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder autosomal-dominant inheritance and high penetrance, but the causative genetic mutation unknown.We have now identified four truncating mutations involving gene PRRT2 in vast majority (24/25) of well-characterized families PKD/IC.PRRT2 were also detected 28 78 additional families.PRRT2 encodes a proline-rich transmembrane protein unknown function that has been reported to interact t-SNARE,...
<h3>Objective</h3> To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs). <h3>Methods</h3> The AAN criteria were used to systematically review literature (January 2003–November 2015), classify pertinent studies according therapeutic rating scheme, link recommendations evidence strength. <h3>Results</h3> Several second-generation AEDs are effective epilepsy. Data...
There are no US Food and Drug Administration-approved therapies for neonatal seizures. Phenobarbital phenytoin frequently fail to control concerns about the safety of seizure medications in developing brain. Levetiracetam has proven efficacy an excellent profile older patients; therefore, there is great interest its use neonates. However, randomized studies have not been performed. Our objectives were study levetiracetam compared with phenobarbital as a first-line treatment seizures.The was...
Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various treatments in AS a large population.A detailed electronic survey containing comprehensive questions regarding conducted through Syndrome Foundation.There were responses from 461 family members individuals AS, whom 86% had (60% multiple seizure types), most common being atonic, generalized tonic-clonic, absence, complex partial. Partial-onset seizures only...
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum a larger cohort of SCL6A1 ‐mutated patients. Methods collected 24 probands 6 affected family members. Four previously published cases included for further electroclinical description. In total, we reviewed data 34 subjects. Results Cognitive development was impaired 33/34 (97%) subjects; 28/34 had...
<h3>Objective</h3> To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). <h3>Methods</h3> criteria were used to systemically review literature (January 2003 November 2015), classify pertinent studies according therapeutic rating scheme, link recommendations evidence strength. <h3>Results</h3> Forty-two articles included. <h3>Recommendations</h3> The following are established as...
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians lack familiarity with these diseases, timely molecular diagnosis may improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for disease and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, superior analytic...
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...
Objective: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy (GE) with second- and third-generation antiepileptic drugs (AEDs). Methods: The AAN criteria was used to systematically review literature (January 2003 November 2015), classify pertinent studies according therapeutic rating scheme, link recommendations evidence strength. Results: Several second-generation AEDs are effective epilepsy. Data lacking on efficacy in...
<b><i>Objective:</i></b> To clinically characterize affected individuals in families with paroxysmal kinesigenic dyskinesia (PKD), examine the association infantile convulsions, and confirm linkage to a pericentromeric chromosome 16 locus. <b><i>Background:</i></b> PKD is characterized by frequent, recurrent attacks of involuntary movement or posturing response sudden movement, stress, excitement. Recently, an autosomal dominant locus on was identified. <b><i>Methods:</i></b> The authors...
To update the 2004 American Academy of Neurology (AAN) guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs).
What is the common denominator of consciousness across divergent regimes cortical dynamics? Does show itself in decibels or bits? To address these questions, we introduce a testbed for evaluating electroencephalogram (EEG) biomarkers using dissociations between neural oscillations and caused by rare genetic disorders. Children with Angelman syndrome (AS) exhibit sleep-like dynamics during wakefulness. Conversely, children duplication 15q11.2-13.1 (Dup15q) wake-like non-rapid eye movement...
Angelman syndrome (AS) is due to deficient ubiquitin protein ligase 3a, the gene for which (UBE3A) maps chromosome 15q11-q13 and imprinted such that only maternally inherited expressed. The paternally UBE3A silenced, a process mediated by an antisense transcript. We conducted trial using methylation-promoting dietary supplements (betaine, metafolin, creatine, vitamin B(12) ) in attempt reduce transcript production, increase expression, ameliorate symptoms of AS. Neuropsychological...
Purpose: Continuous video electroencephalography (cEEG) monitoring is the recommended gold standard of care for at-risk neonates but not available in many Neonatal Intensive Care Units (NICUs). To conduct a randomized treatment trial levetiracetam first-line neonatal seizures (the NEOLEV2 trial), we developed infrastructure at five NICUs, implementing recent technological advancements to provide continuous EEG and real-time response seizure detection. Here, report on feasibility providing...