Sleep and Epilepsy
The association between epilepsy and the sleep/wake cycle is well known. The Circadian Locomotor Output Cycles Kaput (CLOCK) transcription factor plays a key role in this relationship. We are studying how CLOCK function changes in epilepsy and the ways that this can affect both sleep and seizures.
Circuit Changes in Epilepsy
Some types of epilepsy are associated with changes in neurons that occur after seizures. The growth of abnormal axons or “sprouting” of axons in the dentate gyrus of the hippocampus is a well-characterized change that occurs in epilepsy. We study how the cytoskeleton contributes to axon sprouting in epilepsy.
We are collaborating with with Dr. Stephen Helfand to understand how the citrate transporter SLC13A5 is related to epilepsy. Patients with a deficiency in SLC13A5 have seizures within days of being born. Dysfunction in the plasma membrane citrate transporter encoded by this gene causes this newly diagnosed form of infantile epileptic encephalopathy. Our goal is to understand the role of this plasma membrane citrate transporter in neuronal and glial cell types. For more information see the https://tessresearch.org/.
We collaborate with Dr. Eric Morrow by doing the electrophysiology on his models.
We work with Dr. Sofia Lizarraga on her exciting project studying the ASH1L gene in Autism Spectrum Disorder. For more information about the science related to ASH1L see the ASH1L family research website https://www.care4ash1l.com/