Researchers identify new genetic pathway driving epilepsy and seizures

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50 % of individuals with the condition.

Researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital show that epilepsy can be caused not only by defects in a single gene, as has been traditionally considered, but also by specific combinations of two and potentially more defective genes. The study, published in the Journal of Clinical Investigation, can lead to improvements in genetic diagnosis and treatment for many unsolved or drug-resistant cases.

Epilepsy is a neurological condition that causes recurrent seizures and affects about 50 million people worldwide – roughly 1 in every 130 people. Although scientists have discovered more than 1,000 genes that can individually cause epilepsy when disrupted, more than half of patients with a suspected genetic cause have no genetic diagnosis."

Dr. Hugo Bellen, corresponding author, Distinguished Service Professor of the Department of Molecular and Human Genetics at Baylor and chair in neurogenetics at the Duncan NRI