A5034560041- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Cannabis and Cannabinoid Research
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- RNA and protein synthesis mechanisms
- Hemoglobinopathies and Related Disorders
- Neonatal and fetal brain pathology
- Fractal and DNA sequence analysis
- Neurological disorders and treatments
- Ubiquitin and proteasome pathways
- EEG and Brain-Computer Interfaces
- Vagus Nerve Stimulation Research
- Congenital heart defects research
- Peptidase Inhibition and Analysis
- Genetic Syndromes and Imprinting
Lenox Hill Hospital
2023
Northwell Health
2023
New York University
2015-2021
NYU Langone Health
2014-2020
Children's Hospital Colorado
2018
University of Colorado Denver
2018
Saint Barnabas Medical Center
2018
Epilepsy Research UK
2017
Washington University in St. Louis
2017
Johns Hopkins Hospital
2017
Febrile infection-related epilepsy syndrome (FIRES) is a devastating affecting normal children after febrile illness. FIRES presents with an acute phase super-refractory status epilepticus and all patients progress to chronic persistent refractory epilepsy. The typical outcome severe encephalopathy or death. authors present 7 from 5 centers who had not responded antiepileptic drugs other therapies were given cannabadiol (Epidiolex, GW Pharma) on emergency expanded investigational protocols...
The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms without hypsarrhythmia.Patients aged 2 months years were enrolled prospectively new-onset spasms. Treatment choice categorization hypsarrhythmia determined clinically at each site. Response therapy defined as resolution clinical (and if present) relapse 3 after initiation.Eighty-two percent had hypsarrhythmia, but this not associated...
Purpose: Epilepsy and electroencephalographic abnormalities are frequent in idiopathic autism, but there is little information regarding treatment-resistant epilepsy (TRE) this group. We sought to define the clinical electrophysiologic characteristics treatment outcomes these patients. Methods: retrospectively reviewed laboratory data of patients with autism evaluated at NYU Center during a 20-year period. Key Findings: One hundred twenty-seven had least one epileptic seizure; 33.9% TRE...
Childhood-onset refractory epilepsies (e.g., Dravet syndrome [DS]) contribute to developmental delays, impaired quality of life, and increased mortality. We lack safe effective antiseizure medications (ASMs) for these patients. Fenfluramine, an appetite suppressant, increases serotonin activity by releasing inhibiting the reuptake 5-HT stimulating all receptors. Combining fenfluramine with phentermine (Fen-Phen) led sustained weight loss in obese patients, but pulmonary hypertension heart...
Abstract Objective Ataluren is a compound that reads through premature stop codons and increases protein expression by increasing translation without modifying transcription or mRNA stability. We investigated the safety efficacy of ataluren in children with nonsense variants causing Dravet Syndrome (DS) CDKL5 Deficiency (CDD). Methods This single‐center double‐blind, placebo‐controlled crossover trial randomized subjects to receive placebo for 12 weeks (period 1), 4‐week washout, then...
We studied the frequency of auras in generalized epilepsy (GE) using a detailed semistructured diagnostic interview.In this cross-sectional study, participants with GE were drawn from Epilepsy Phenome/Genome Project (EPGP). Responses to standardized interview regarding tonic-clonic (grand mal) seizures then examined. This questionnaire initially required provide their own description any subjective phenomena before "grand mal seizures." Participants who provided answers these questions...
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes limited by the young age short follow-up many of previously reported cases, further delineation spectrum associated phenotypes is needed. We present 25 new patients with variants in refine NDD epilepsy phenotypes. were identified research or clinical exome sequencing, investigators from different centers connected via GeneMatcher. Most...
The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the of ASD with epilepsy less 3:1. This indicates an elevated risk females ASD; yet, it is unknown whether phenotypic features and differ between males this comorbidity. goal study to investigate sex differences a prospective sample 130 children young adults initial diagnosis subsequent diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed...
Dravet syndrome (DS) is a severe genetic epilepsy characterized by early-life onset, seizures, and neurodevelopmental delays that have major impacts on affected children. DS an incurable condition requires lifelong multidisciplinary approach involving both clinical caregiver support. A better understanding of the multiple perspectives involved in care patients necessary for supporting diagnosis, management, treatment DS. Here we describe personal experiences clinician facing challenges...
Consider seizures in the differential diagnosis of atypical or unusual behaviors patients with genetic neurologic syndromes such as Angelman syndrome. Focal frontal lobe can be mistaken for stereotyped behaviors, particularly when there is bilateral motor activity preserved awareness, and are difficult to diagnose without video-EEG.