AANS Neurosurgeon | Volume 26, Number 1, 2017

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Common Epilepsies Share Genetic Overlap With Rare Types

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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.

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