A5062460464- Epilepsy research and treatment
- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- Diet and metabolism studies
- Adipokines, Inflammation, and Metabolic Diseases
- Growth Hormone and Insulin-like Growth Factors
- PI3K/AKT/mTOR signaling in cancer
- GDF15 and Related Biomarkers
- Liver Disease Diagnosis and Treatment
- Regulation of Appetite and Obesity
- CRISPR and Genetic Engineering
- Pluripotent Stem Cells Research
Harvard University
2023-2025
Boston Children's Hospital
2023-2025
Boston University
2025
Objectives Dravet syndrome is an epileptic encephalopathy mostly because of haploinsufficiency the SCN1A voltage-gated sodium channel subunit. Disease presentation (i.e. severe seizures and early life mortality) faithfully modeled in mice haploinsufficient Scn1a ( +/- ). However, characterization sex differences mortality seizure morbidity limited. Given reliance mouse models for studying disease pathophysiology development novel treatments, we tested whether differed juvenile adult female...
Abstract Dravet syndrome (DS) is an epileptic encephalopathy mostly due to haploinsufficiency of the SCN1A voltagegated sodium channel subunit. Disease presentation (i.e., severe seizures and early life mortality) highly recapitulated in mice haploinsufficient Scn1a ( +/- ). However, phenotypic characterization a sex temporal manner limited. Given reliance mouse models for studying disease pathophysiology development novel treatments, we tested whether mortality seizure morbidity differed...