November 16, 2022

UTSW Scientists Identify Brain Circuit That Triggers Rare, Blood Sugar-Dependent Epilepsy

Article published by UT Southwestern

A small group of brain cells linked in a circuit is responsible for setting off whole-brain seizures in a rare form of epilepsy affected by blood sugar levels, a study led by UT Southwestern researchers suggests. The finding, published in Science Translational Medicine, could lead to new treatments for other metabolic disorders in the brain, the authors said.

“There are broad implications for other diseases because this circuit is involved in dementias, schizophrenia, sleep, and cognition,” said study leader Juan Pascual, M.D., Ph.D., Professor of Neurology, Pediatrics, Physiology and in the Eugene McDermott Center for Human Growth and Development. “Our lab is moving toward studying these implications now.”

Dr. Pascual, who directs the Rare Brain Disorders Program, said he and his colleagues in the Pascual lab at UTSW’s Peter O’Donnell Jr. Brain Institute have long been interested in a disease known as GLUT1 deficiency syndrome because of its unusual characteristics. Diagnosed in only a few hundred people worldwide, this disease is caused by a congenital deficiency in a protein called glucose transporter type 1, which brings blood sugar into cells to use as fuel.