Epilepsy

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.

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In Part 1 of our Epilepsy Q&A, we asked neurosurgeon Dr. Jay Hauptman how brain surgery for epilepsy has evolved in recent years and why major brain surgery for infant Jiana was his first choice for treating her epilepsy. In Part 2 next month we will hear from Dr. Hauptman and Dr. Ghayda Mirzaa about how patients are benefitting from new treatments derived from genetic research underway at Seattle Children’s and the Center for Integrative Brain Research.

“The brain surgery of today is completely different than the brain surgery of 20 years ago. And our understanding of epilepsy is completely different than it was 20 years ago. And because of that, our treatments have become so much better, so much more tailored and so much more effective.” – Dr. Jay Hauptman

Q: Can you explain why a more significant surgery on a young child with epilepsy may be a better approach than a more conservative surgery?

There are a lot of things that we have learned in the last 20 years that have taught us that being aggressive, going for cure, is perhaps the most important thing in the management of epilepsy in children. We know from studies that were done quite some time ago that when children are on two antiseizure medicines — it doesn’t even matter which two those are, they can be the oldest ones that we have in history of epilepsy medicines or the newest ones that just came out of a clinical trial in the last year — and they continue to have seizures, the likelihood of a third or a fourth medicine ending their epilepsy is near zero, less than 5%. Read full post »