This summer I worked on two seizure projects with Dr. Edmondson at the Zhou lab. The first was around CDKL5 Deficiency Disorder, which among other symptoms causes infantile seizures in human patients. Very little is known about this X-linked genetic disorder even though it affects every aspect of a person’s life, from basic movement to communication. Other labs have worked with mice given the same genetic abnormality that was seen in human patients but had not found any seizures. The expectation had been that mice would develop epilepsy early in life like human patients had. However, the Zhou lab found that these mice do have seizures, just later in life (at around four months on average). The lab also noticed that the mice having seizures were all female and with one copy of the abnormal gene rather than two. This finding was surprising because in humans male patients show more severe symptoms. Some of the aging female breeder mice were then put into monitoring chambers for as long as five days at a time where their behavior was recorded. I watched many of these videos and documented seizures and pertinent events in nine mice. Something I noticed which was later confirmed by another lab as likely seizure activity was that the mice would often fall onto their side while they were sleeping. The Zhou lab has since recorded videos with EEG readings of the left and right cortices so that we can confirm that the events seen in the videos are abnormal. I have watched several of these videos as well but have not found any generalized seizures caught on camera.
The second project was on Congenital Disorders of Glycosylation which is a group of disorders caused by abnormalities in any of over 130 genes. Patients are usually short in stature, have intellectual disabilities, and develop epilepsy. The mouse model the Zhou lab works with mimics many of these symptoms. Human patients also present with ataxia and delayed motor coordination. I observed young mouse pups, looking for growth and movement abnormalities. From days 5 to 13, I weighed the mice and flipped them onto their backs to observe how long it would take them to flip back onto their fronts. This assay did not show any significant differences between wild type pups and pups with the genetic abnormality.
Going into this experience I was skeptical about doing research in genetics rather than just neuroscience. However, my mentors have shown me that research is very individual and every person contributes their own strengths and interests to each projects. I really enjoyed my time with everyone at the Zhou lab an look forward to working with them during the upcoming year.