Helfand Lab
Principal Investigator: Stephen L Helfand
Institution: Brown University (Providence, RI)
Primary Subfield: Neuroscience
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
Scientific Abstract: SLC13A5 epilepsy is a newly recognized form of Developmental Epileptic Encephalopathy 25 (DEE25) with seizures beginning within the first days of life along with subsequent intellectual and motor symptoms. In these patients, mutations in the SLC13A5 gene, which encodes a plasma membrane citrate transporter, result in a severe, early onset multi-focal epilepsy and cognitive and behavioral symptoms. How disruption of SLC13A5 function results in dysfunction of neural circuitry is unknown. In patients and in rodent loss of function models of SLC13A5, plasma citrate concentrations are elevated and cytoplasmic citrate is decreased. Since citrate is a precursor to neurotransmitters, diminished glial and neuronal citrate may result in abnormal neuro-transmitter metabolism, contributing to functional defects. However, SLC13A5 loss of function may not account for the full severity of the disorder, and truncations of SLC13A5 are rarely observed in patients. Instead, human genetics show that certain mutations are over-represented as known causative mutations; SLC13A5 G219R (DNA G655A) and T227M (DNA C680T) are the most common recurrent mutations found in approximately two-…
Active NIH Awards
- 5R01NS131865-04: Genetic and Functional Mechanisms in Citrate Transporter Disorder associated with SLC13A5 (2026)
- 5P01AG051449-10: Project 2: Role of Retrotransposable Element Activity in Drosophila Models of Alzheimer's Disease (2026)
- 5R01NS131865-03: Genetic and Functional Mechanisms in Citrate Transporter Disorder associated with SLC13A5 (2025)
- 5P01AG051449-09: Project 2: Role of Retrotransposable Element Activity in Drosophila Models of Alzheimer's Disease (2025)
- 5P01AG051449-08: Project 2: Role of Retrotransposable Element Activity in Drosophila Models of Alzheimer's Disease (2024)
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