Sophie Krantz
Pronouns: She/Her
Research Mentor(s): Julie Ziobro
Research Mentor School/College/Department: Pediatrics/Pediatric Neurology / Medicine
Program: UROP
Session: Session 7 (4:40pm – 5:30pm)
Authors: Sophie Krantz, Julie Ziobro
Abstract
Introduction Epilepsy is one of the most common neurologic disorders in children, and can have variable causes, including brain structural changes or other underlying illnesses. However, in the majority of patients with epilepsy, we presume the cause to be genetic. This study is being conducted to determine the genetic links found between pediatric patients with diagnosed epilepsy. This study aims to provide a database of genetic testing results in pediatric patients with epilepsy to assess for the most common genetic etiologies. Methods To complete this study, researchers used the EMERSE database to collect information regarding the genetic testing results, medical history, and epilepsy and seizure details from a list of patient files seen in the Pediatric Neurology Clinic at Michigan Medicine. Using these files, researchers then input the most pertinent data regarding the epilepsy status and specific genetic tests done into a multi-center REDCAP database, which will allow researchers to more easily crosscheck all of the data for this study and compare patient populations across sites. Once the complete list of patients’ info has been inputted to REDCAP, researchers will then be able to assess common genetic variants in pediatric epilepsy and their associated phenotypes. Results and Conclusions After logging data from the first 75 patients in the Michigan Medicine database, several common themes have emerged. Interestingly, the most common age for the onset of seizures in our cohort was in infancy (one month to one year), though the average age of genetic testing for pediatric epilepsy patients was 7.2 years. Of the 75 patients, 11 patients had a pathogenic variant reported. The remainder of the cohort had at least one variant of unknown significance reported. Additional data collected will help to pave the way towards finding the most important genetic links between epilepsy patients and will be discussed more in the results section.
