Aberrant Trafficking Of GABAA Receptor Epilepsy Mutations Leads To Endoplasmic Reticulum Stress-Related Neurodegeneration Following Prolonged Febrile Seizures

It has been demonstrated that prolonged febrile seizures – seizures with high fever – may lead to atrophy in the hippocampal region of the brain, resulting in the development of partial complex epilepsy. The pathological basis for the atrophy is unclear, but a common genetic basis between febrile seizures and the later development of epilepsy is suspected. This project seeks to understand the role of a particular epilepsy gene mutation (GABAA receptor subunits) in this process. Findings from this study could ultimately lead to novel approaches to treatment and prevention in patients at risk of developing epilepsy after febrile seizures.