Authors :
Presenting Author: Aaron Struck, MD – Washington University School of Medicine in St. Louis
Camille Garcia-Ramos, PhD – University of Wisconsin School of Medicine and Public Health
Vivek Prabhakaran, MD, PhD – University of Wisconsin School of Medicine and Public Health
Veena Nair, MD, PhD – University of Wisconsin School of Medicine and Public Health
Anusha Adluru, MS – University of Wisconsin School of Medicine and Public Health
Santiago Philibert-Rosas, MD – Washington University School of Medicine in St. Louis
Dace Almane, MS – University of Wisconsin-Madison
Nagesh Adluru, PhD – University of Wisconsin School of Medicine and Public Health
Jana Jones, PhD – University of Wisconsin–Madison
Bruce Hermann, PhD – University of Wisconsin School of Medicine and Public Health
Rationale:
Juvenile Myoclonic Epilepsy (JME) is the most common idiopathic generalized epilepsy, frequently associated with cognitive and psychiatric comorbidities and ~20–30% treatment resistance. While rare variants like EFHC1 exist, most cases are polygenic. In this study we aimed to identify imaging endophenotypes in Juvenile Myoclonic Epilepsy (JME) using individualized Z-maps of cortical/subcortical regions and examine their relationships with cognitive, psychiatric and epilepsy-related variables.
Methods:
62 JME patients (aged 12–25 years) and 41 age-and sex-matched healthy controls (HC) underwent 3T MRI, neuropsychological assessment, psychiatric evaluation, and clinical interviews. Cortical thickness and subcortical volumes were processed with FreeSurfer, adjusted for age, sex, and brain volume. Kolmogorov-Smirnov tests were used to compare regional distributions. Z-scores were calculated relative to HC, and K-means clustering identified endophenotypes.
Results:
In JME there were reduced subcortical volumes most prominently in motor-related thalamus (p< 0.001) and greater variability in cortical thickness in the frontal/parietal regions. Three endophenotypes