A5087393333- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- EEG and Brain-Computer Interfaces
- Neonatal Respiratory Health Research
- Cardiac Arrest and Resuscitation
- Ion channel regulation and function
- Neurological disorders and treatments
- Fetal and Pediatric Neurological Disorders
- Functional Brain Connectivity Studies
- Ion Transport and Channel Regulation
- Neuroscience of respiration and sleep
- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- Intensive Care Unit Cognitive Disorders
- Cardiac electrophysiology and arrhythmias
- Neurobiology of Language and Bilingualism
- Advanced MRI Techniques and Applications
- Dental Health and Care Utilization
- Cannabis and Cannabinoid Research
- Cerebrospinal fluid and hydrocephalus
University of California, San Francisco
2016-2025
UCSF Benioff Children's Hospital
2015-2025
Oregon Health & Science University
2019
University of Pennsylvania
2004-2018
Children's Hospital of Philadelphia
1987-2018
Kennedy Krieger Institute
2018
Johns Hopkins University
2018
University of Michigan
2014-2018
University of Utah
2018
John Wiley & Sons (United States)
2017
OBJECTIVE: De novo mutations of the gene sodium channel 1α (SCN1A) are major cause Dravet syndrome, an infantile epileptic encephalopathy. US incidence DS has been estimated at 1 in 40 000, but no epidemiologic studies have performed since advent genetic testing. METHODS: In a retrospective, population-based cohort all infants born Kaiser Permanente Northern California during 2007–2010, we electronically identified patients who received ≥2 seizure diagnoses before age 12 months and were also...
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...
Abstract Objective This study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis management of Dravet syndrome (DS), in the context recently approved, DS‐specific therapies emerging disease‐modifying treatments. Methods A core working group convened consisting six with recognized expertise DS two representatives Syndrome Foundation. summarized current literature (focused on clinical presentation, comorbidities, maintenance rescue...
New treatment options are needed for patients with Lennox-Gastaut syndrome (LGS), a profoundly impairing, treatment-resistant, developmental and epileptic encephalopathy.To evaluate the efficacy safety of fenfluramine in LGS.This multicenter, double-blind, placebo-controlled, parallel-group randomized clinical trial was conducted from November 27, 2017, to October 25, 2019, had 20-week duration. Patients were enrolled at 65 study sites North America, Europe, Australia. Included aged 2 35...
Therapeutic hypothermia (TH) is becoming standard of care in newborns with hypoxic-ischemic encephalopathy (HIE). The prognostic value the EEG and incidence seizures during TH are uncertain.To describe evolution background TH, to identify patterns predictive for MRI brain injury.A total 41 HIE underwent TH. Continuous video-EEG was performed rewarming. were reported a standardized manner. Newborns after Sensitivity specificity moderate severe injury assessed at 6-hour intervals rewarming.EEG...
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with neonatal-onset epilepsy intractable seizures and psychomotor impairment, termed encephalopathy.(3,4) This condition all reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases encephalopathy period studied continuous video-EEG recording. describe distinct...
<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...
<h3>Objective:</h3> To assess the risk factors for electrographic seizures among neonates treated with therapeutic hypothermia hypoxic-ischemic encephalopathy (HIE). <h3>Methods:</h3> Three-center observational cohort study of 90 term hypothermia, monitored continuous video-EEG (cEEG) within first day life (median age at onset recording 9.5 hours, interquartile range 6.3–14.5), and continued >24 hours (total 93.3 80.1–112.8 survivors). A pediatric electroencephalographer each site...
Molecular genetic etiologies in epilepsy have become better understood recent years, creating important opportunities for precision medicine. Building on these advances, detailed studies of the complexities and outcomes testing can provide useful insights that inform refine diagnostic approaches illuminate potential medicine epilepsy.We used a multi-gene next-generation sequencing (NGS) panel with simultaneous sequence exonic copy number variant detection to investigate up 183...
This study was undertaken to assess the safety and efficacy of fenfluramine in treatment convulsive seizures patients with Dravet syndrome.This multicenter, randomized, double-blind, placebo-controlled, parallel-group, phase 3 clinical trial enrolled syndrome, aged 2-18 years poorly controlled seizures, provided they were not also receiving stiripentol. Eligible who had ≥6 during 6-week baseline period randomized placebo, .2 mg/kg/day, or .7 mg/kg/day (1:1:1 ratio) administered orally...
Dravet syndrome (DS) and Lennox-Gastaut (LGS) are rare developmental epileptic encephalopathies associated with seizure nonseizure symptoms. A comprehensive understanding of how many individuals affected globally, the diagnostic journey they face, extent mortality these conditions is lacking. Here, we summarize evaluate published data on epidemiology DS LGS in terms prevalence, incidence, diagnosis, genetic mutations, sudden unexpected death epilepsy (SUDEP) rates. The full study protocol...
Abstract Fully elucidating the burden that Lennox–Gastaut syndrome (LGS) places on individuals with disease and their caregivers is critical to improving outcomes quality of life (QoL). This systematic literature review evaluated global illness LGS, including clinical symptom burden, care requirements, QoL, comorbidities, caregiver economic treatment (PROSPERO ID: CRD42022317413). MEDLINE, Embase, Cochrane Library were searched for articles met predetermined criteria. After screening 1442...
Dysembryoplastic neuroepithelial tumors (DNETs) are a subset of relatively rare glioneuronal that typically present with epilepsy during childhood. The authors' aim was to identify factors predict seizure control following excision.The authors reviewed the cases 50 patients who underwent resection DNETs at University California, San Francisco, between 1990 and 2006. Demographic, history, radiographic, histopathological data were collected analyzed for statistical association postoperative...
Summary Purpose To review the efficacy and tolerability of stiripentol in treatment U . S children with D ravet syndrome. Methods clinicians who had prescribed for two or more syndrome between March 2005 2012 were contacted to request participation this retrospective study. Data collected included overall seizure frequency, frequency prolonged seizures, use rescue medications emergency room ( ER )/hospital visits year preceding initiation, therapy. We separately assessed following groups: g...