How Genetic Epilepsy Research Is Offering Pediatric Patients New Options: A Q&A With Drs. Ghayda Mirzaa and Jay Hauptman
In Part 1 of our Epilepsy Q&A, Dr. Jay Hauptman discussed advances in neurosurgery and the many new options available for children with intractable epilepsy. In Part 2, we hear from Dr. Hauptman and Dr. Ghayda Mirzaa about the genetics of epilepsy and how research is leading to new nonsurgical treatment options.
Dr. Mirzaa is a Seattle Children’s clinical and molecular geneticist at the Center for Integrative Brain Research and Seattle Children’s Epilepsy Program. Dr. Hauptman is a neurosurgeon with Seattle Children’s Epilepsy Program.
Q: What do we know about the role of genetics in epilepsy?
DR. HAUPTMAN: We know genetics contribute significantly to many types of epilepsy. Roughly a third of cases have an underlying genetic cause. We are still learning how and why genetic mutations cause epilepsy in kids.
Q: What is the focus of recent research?
DR. MIRZAA: We’ve made great progress in the last few years, at Seattle Children’s Center for Integrative Brain Research and elsewhere. Our Seattle Children’s team has traced focal cortical dysplasia, which is among the leading causes of intractable epilepsy, to mutations in a family of genes that control important pathways, such as the mammalian target of rapamycin (mTOR) pathway. Now we are exploring if drugs that are known to inhibit this pathway, which are already being used or tested to treat cancer, can be effective for epilepsy too.
