Epilepsy Genetics Program

At Brigham and Women’s Hospital, our commitment to understanding epilepsy is rooted in the latest scientific research, which shows that genetics play a significant role in this neurological disorder. Many individuals with epilepsy have what are known as "de novo" gene mutations, which are genetic changes that occur spontaneously and are not always inherited from parents. Our approach is to delve into each individual’s DNA, uncovering the unique genetic factors that contribute to their epilepsy.

This personalized insight is crucial. It allows our specialists to tailor treatments to the individual, leading to better management of the condition. Our Epilepsy Genetics Program is at the forefront of this personalized care. We recognize that many adults with epilepsy have gone untested due to the historical inaccessibility of genetic testing. We’re changing that by making genetic testing a routine part of the diagnostic process for epilepsy.

Genetic testing informs us not only about the right medications or dietary adjustments but also about the most suitable surgical approaches and eligibility for cutting-edge clinical trials. While not all patients may see an immediate change, our goal is clear: to harness the power of genetic understanding to offer a future of more effective, individualized epilepsy care. At the Epilepsy Genetics Program every patient’s journey with epilepsy is personal, and our treatment plans are as unique as the genetic blueprint that underlies their condition.

Learn more about Epilepsy Genetics and testing (video)

Featured Clinical and Research Work by Our Team

The Director of the Epilepsy Genetics Program, Dr. Khoshkhoo, is widely recognized for his contribution in understanding the genetic underpinning of focal epilepsies that require surgical treatment. Dr. Khoshkhoo and his team showed that genetic mutations that are acquired in the womb or perhaps even after birth can give rise to the most common form of drug-resistant epilepsy in adults, mesial temporal lobe epilepsy:

Dr. Khoshkhoo also leads a research laboratory where his team studies new and established genetic mechanisms for epilepsies. The primary goal of his lab’s research efforts is to create novel personalized treatment options for individuals with genetic forms of epilepsy.

Watch a video of Dr. Khoshkoo discussing precision medicine approaches to epilepsy treatment options

Ongoing Research

The Epilepsy Genetics Program at Brigham and Women’s Hospital is at the forefront of international research efforts to understand and treat genetic forms of epilepsy. Some of the key focus areas include:

  • Examining the contribution of developmental genetic mutations to focal drug-resistant epilepsy.
  • Developing minimally invasive diagnostic strategies for genetic profiling of brain lesions that cause focal epilepsies.
  • Understanding the impact of genetic mutations on treatment outcomes in epilepsy.
  • Development of targeted treatments for individuals with genetic forms of epilepsy.

We are always exploring new areas of investigation that could benefit our patients and create a better future for individuals with epilepsy.

Click here to learn more about Dr. Khoshkhoo's research in Brigham Clinical and Research News

Our Team

Sattar Khoshkhoo, MD

Sattar Khoshkhoo, MD

Director, Epilepsy Genetics Clinic

View entire profile 
Tina Truong, MMSc, CGC

Tina Truong, MMSc, CGC

Genetic Counselor

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