Brown University · BiochemistryEpilepsy Genetics Research Unit
Stephen L Helfand · Providence, Rhode Island
Research Focus
Dr. Stephen L. Helfand's lab at Brown University focuses on understanding a rare genetic disorder resulting in severe epilepsy caused by mutations in the SLC13A5 gene. The lab utilizes advanced models, including fruit flies and mice, to explore how these mutations disrupt brain functions and develop potential treatments. Their research is crucial for linking genetics to the observed symptoms in patients, paving the way for new therapeutic strategies.
epilepsySLC13A5gene mutationscitrate transportDrosophila models
Research Aims
3AIM 01Investigate the normal function of the SLC13A5 gene in brain physiology.
AIM 02Examine how specific mutations in SLC13A5 lead to neural dysfunction.
AIM 03Explore new therapeutic strategies to alleviate symptoms of SLC13A5 syndrome.
Skills the Lab Values
genetic engineeringanimal modelingelectrophysiologyimmunohistochemistrybehavioral assays
Output against the department
Publications139bottom 40% of dept.242nd of 402
this lab
most publishedleast published
Citations13ktop 37% of dept.147th of 402
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.