A5014330783- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Genomics and Rare Diseases
- Cannabis and Cannabinoid Research
- Neurological disorders and treatments
- Neuroscience and Neuropharmacology Research
- Tuberous Sclerosis Complex Research
- Mitochondrial Function and Pathology
- Telemedicine and Telehealth Implementation
- Diet and metabolism studies
- Ion Transport and Channel Regulation
- Cardiovascular Syncope and Autonomic Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Drug Transport and Resistance Mechanisms
- Psychosomatic Disorders and Their Treatments
- Vagus Nerve Stimulation Research
- Cerebrospinal fluid and hydrocephalus
- Infectious Encephalopathies and Encephalitis
- Cardiac Arrhythmias and Treatments
- Neurogenetic and Muscular Disorders Research
- Patient Satisfaction in Healthcare
- Delphi Technique in Research
Children's Medical Center
2023-2025
The University of Texas Southwestern Medical Center
2022-2025
Southwestern Medical Center
2025
Medical University of South Carolina
2025
Korea National Institute of Health
2024
Hudson Institute
2024
John Wiley & Sons (United States)
2024
University of Colorado Denver
2017-2023
Children's Hospital Colorado
2017-2023
Boston Children's Hospital
2012-2022
<h3>Objective</h3> To evaluate the safety and preliminary pharmacokinetics of a pharmaceutical formulation purified cannabidiol (CBD) in children with Dravet syndrome. <h3>Methods</h3> Patients aged 4–10 years were randomized 4:1 to CBD (5, 10, or 20 mg/kg/d) placebo taken twice daily. The double-blind trial comprised 4-week baseline, 3-week treatment (including titration), 10-day taper, follow-up periods. Completers could continue an open-label extension. Multiple pharmacokinetic blood...
<h3>Importance</h3> Efficacy of cannabidiol has been demonstrated in seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have established conditions primarily focal seizures, such as tuberous sclerosis complex (TSC). <h3>Objective</h3> To evaluate efficacy safety 25-mg/kg/day 50-mg/kg/day dosages vs placebo against TSC. <h3>Design, Setting, Participants</h3> This double-blind, placebo-controlled randomized clinical trial (GWPCARE6) enrolled patients between...
Summary Objective Since 2014, cannabidiol ( CBD ) has been administered to patients with treatment‐resistant epilepsies TREs in an ongoing expanded‐access program EAP ). We report interim results on the safety and efficacy of treated through December 2016. Methods Twenty‐five US ‐based sites enrolling TRE taking stable doses antiepileptic drugs AED s) at baseline were included. During 4‐week period, parents/caregivers kept diaries all countable seizure types. Patients received oral starting...
Summary Objective To prospectively evaluate the etiology of new‐onset infantile spasms and yield genetic metabolic investigations in those without obvious cause after initial clinical evaluation magnetic resonance imaging ( MRI ). Methods Twenty‐one U.S. pediatric epilepsy centers enrolled infants with newly diagnosed West syndrome a central database. Etiology performed within 3 months diagnosis were documented. Results From June 2012 to 2014, total 251 (53% male). A was identified 161...
<h3>Objective:</h3> To define a distinct <i>SCN1A</i> developmental and epileptic encephalopathy with early onset, profound impairment, movement disorder. <h3>Methods:</h3> A case series of 9 children were identified mutation. <h3>Results:</h3> We 3 to 12 years age; 7 male. Seizure onset was at 6 weeks hemiclonic seizures, bilateral tonic-clonic or spasms. All had impairment nonverbal nonambulatory, required gastrostomy. hyperkinetic disorder occurred in all characterized by dystonia...
To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations predicted functional consequences based on structural modeling.We reviewed data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation known undertook biomolecular modeling assess effect function.We identified 19 de novo a sibling pair who had an inherited from mosaic parent. Seven (33.3%)...
Abstract Neuromodulation via Responsive Neurostimulation (RNS) or Deep Brain Stimulation (DBS) is an emerging treatment strategy for pediatric drug‐resistant epilepsy (DRE). Knowledge gaps exist in patient selection, surgical technique, and perioperative care. Here, we use expert survey to clarify practices. Thirty‐two members of the Pediatric Epilepsy Research Consortium were surveyed using REDCap. Respondents from 17 centers (missing data one): Four implant RNS only while 13 both DBS....
OBJECTIVE Patients with drug-resistant epilepsy (DRE) are often referred for phase II evaluation stereo-electroencephalography (SEEG) to identify a seizure onset zone guiding definitive treatment. For patients without focal zone, neuromodulation targeting the thalamic nuclei—specifically centromedian nucleus, anterior nucleus of thalamus, and pulvinar nucleus—may be considered. Currently, nuclei selection is based mainly on location onset, detailed their network involvement. This study aimed...
Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss benefits of WES suggest various algorithms to follow for determining etiology Incorporation in these is leading discovery new genetic diagnoses early onset encephalopathies (EOEEs) at a rapid rate; however, not yet universally utilized diagnostic tool. Clinical may be underutilized due provider discomfort ordering test or perceived...
A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., neurological and psychiatric sequelae stemming from cortical left vmPFC. B.W.'s behavior characterized through extensive review Patience clinical personal records along neuropsychological testing. central feature is severe antisocial behavior. He aggressive, manipulative, callous; features...
Abstract Objective To estimate the timing of cannabidiol (CBD) treatment effect (seizure reduction and adverse events [AEs]) onset, we conducted a post hoc analysis GWPCARE6 (NCT02544763), randomized, placebo‐controlled, phase 3 trial in patients with drug‐resistant epilepsy associated tuberous sclerosis complex (TSC). Methods Patients received plant‐derived pharmaceutical formulation highly purified CBD (Epidiolex; 100 mg/ml oral solution) at 25 mg/kg/day (CBD25) or 50 (CBD50) placebo for...
The Pediatric Epilepsy Research Consortium (PERC) Health Equity Special Interest Group (SIG) used Concept Mapping to begin developing Common Data Elements (CDE) about social determinants of health standardize data collection and facilitate robust evaluation disparities in pediatric epilepsy research. is a structured participatory mixed method suited for group consensus. PERC members (1) identified factors that are important measure research, (2) sorted into meaningful categories, (3) rated...
Background: PCOS-related acne is commonly treated with topical retinoids, antibiotics, and sunscreen, but chemical UV filters like oxybenzone can cause hypersensitivity reactions. Case Presentation: A 20-year-old female PCOS developed facial redness, itching, exfoliation, fever (102°F) after applying a sunscreen containing overnight. Lab findings showed elevated eosinophils (13.1%), indicating an allergic reaction. Management: Treatment was discontinued, she prescribed Desonide, Allegra,...
This consensus position statement of the American Academy Neurology, Epilepsy Society, and Foundation America updates prior 1994 2007 statements on seizures, driver licensure, medical reporting. Key positions include following: (1) in United States, national driving standards promulgated through a system such as Uniform Law Commission would reduce confusion improve adherence with state standards; (2) licensing criteria for conditions should be by regulations guidelines based enabling...
Factors Associated With Poor Sleep-In Children Drug-Resistant Epilepsy Proost R, Cleeren E, Jansen B, Lagae L, Van Paesschen W, K. Epilepsia . 2024;65(11):3335-3349. doi:10.1111/epi.18112. Objective: We aimed to investigate sleep in children with drug-resistant epilepsy (DRE), including developmental and epileptic encephalopathies (DEEs). Next, we examined differences macrostructure microstructure questionnaire outcomes between well-controlled (WCE) DRE. Furthermore, wanted identify factors...