Research Identifies Potential Treatment Target for of Infantile and Epileptic Spasms Syndrome

February 13, 2023

Article published by News Medical Life Science

New research from Tufts University School of Medicine and the Graduate School of Biomedical Sciences suggests that the timing of the death of certain inhibitory neurons in the brain shortly after birth may be at least partly to blame for infantile and epileptic spasms syndrome (IESS), a rare but devastating form of epilepsy that develops most frequently between four and eight months of age but can emerge within weeks of birth until ages 4 or 5.

Their research in mice suggests both a potential new target for treatment and raises the hope that, in the future, early diagnosis and treatment could detect and prevent some of the most significant impairments associated with the syndrome. The research was published Jan. 30 in the Journal of Neuroscience.

In their research, the Tufts scientists focused their studies on the b-catenin signaling pathway in a mouse model, originally developed by neuroscientist and School of Medicine professor Michele Jacob, that develops a condition analogous to IESS. The mice also demonstrate intellectual disabilities and behavioral abnormalities corresponding to human autism spectrum disorder.

The researchers determined that cortical parvalbumin-positive interneuron development and function are altered in the mice. These neurons are the largest class of GABAergic, inhibitory neurons in the central nervous system.