Common Epilepsies Share Genetic Overlap With Rare Types
Precision medicine-based therapy may apply to wider range of epilepsies
An international study led by Columbia University Medical Center (CUMC) and NewYork-Presbyterian researchers has found that several genes previously implicated only in rare, severe forms of pediatric epilepsy also contribute to common forms of the disorder. “Our findings raise hopes that the emerging paradigm for the treatment of rare epilepsies, where therapies are targeted to the precise genetic cause of disease, may also extend to a proportion of common epilepsy syndromes,” said study leader David B. Goldstein, PhD, director of the Institute for Genomic Medicine and professor in the Departments of Genetics and Development and Neurology at CUMC. In recent years, researchers have uncovered dozens of genes that, alone or in combination with other factors, cause rare pediatric epilepsies. These discoveries have led to the use of targeted therapies for some seizure disorders, such as the ketogenic (high-fat, low-carbohydrate) diet in patients with Dravet syndrome or a GLUT-1 deficiency. Other therapies such as quinidine, a medication to treat heart arrhythmias, and memantine, an Alzheimer’s disease treatment, have been tried in children with certain gene mutations. These attempts have not proved universally effective for all patients with these mutations, but suggest the potential to repurpose existing medicines to treat rare genetic forms of epilepsy.
Click here to read more.
CARS 2018 Computer Assisted Radiology and Surgery
June 20-23, 2018; Berlin, Germany
2018 New England Neurosurgical Society Annual Meeting
June 28-30, 2018; Chatham, MA
15th International Congress on Neuromuscular Diseases
July 6-10, 2018; Vienna
International Summer School Transnasal Endoscopic Surgery: From Sinuses to Skull Base
July 9-13, 2018; Brescia, Italy
7th Annual World Course in Advanced Brain Tumor Surgery
July 12-15, 2018; London