Research Studies

Genetics Study Survey (For Master's Thesis)

Has your child had genetic testing to find the cause of his/her epilepsy?

If so, we invite you to help us help families!

Share your experiences with the genetic testing process to help clinicians 

better serve families in the future – and enter to win a $75 Amazon gift card.

Click here to learn more!

Questions?? please contact Rhonda Feinbaum at 

Epilepsy Genetics Program

With my son's diagnosis of Ohtahara Syndrome came a desire to understand, to know the answers to so many of my questions. Why is a big part of this. Through my searches I have been able to correspond directly with Dr. Ohtahara, read many articles involving studies on Ohtahara Syndrome, and meet many other families going through this same diagnosis; yet I still have so many questions. These questions are not just for my son, but for all these children diagnosed in the past and in the future. Understanding may give hope, hope for a new medication to stop the seizures, a new surgical procedure, a new way to read the seizure activity, and yes even hope for a miracle. Answers for this heartbreaking syndrome. I believe that is what we are all looking for, a miracle, a chance to hope for the best for our children. This is what drives my passion for research. It is near and dear to my heart. We all want answers, in this situation research is our answer for now.

Research can be defined as the scientific search for knowledge, or as any systematic investigation, to establish novel facts, solve new or existing problems, prove new ideas, or develop new theories, usually using a scientific method. (wikipedia- To solve new or existing problems?! To solve the puzzle of Ohtahara Syndrome? Yes, that is what I am looking for. Now I understand these hopes may be far off, a small light in the tunnel, however, what do we have if we can not hope or have faith? I believe in the power of research, therefore the power of knowledge. As the saying goes, knowledge is power. Research is being done regarding Ohtahara Syndrome and other early onset pediatric epilepsy today. Through studies it has been determined a few genes that have a link to OS and other epilepsy. Without this, we would still be completely in the dark.  Truthfully, many of these studies regarding epilepsy in general may not help our children in particular, but I pray these answers will help them and children diagnosed in the future.  I want to share with you all a current study.

At Children's Hospital Boston a clinical and research program focusing on epilepsy genetics has been active since 2009. Below is the research aim for the Epilepsy Genetics Program.


Epilepsy affects approximately one percent of the population and one in 200 children. A subset of children with epilepsy present in the first year of life with an early onset epileptic encephalopathy syndrome consisting of severe, medically intractable epilepsy and ultimately intellectual disability. While it is well established that genetic factors contribute substantially to the causes of epilepsy, there are still few known genetic etiologies for the early onset epileptic encephalopathies. These syndromes include infantile spasms, early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome), malignant migrating partial epilepsy of infancy, early myoclonic epileptic encephalopathy, and severe myoclonic epilepsy of infancy (Dravet syndrome). Though they are distinct clinical syndromes, the few genes identified to date with any of them have been associated with a range of phenotypes, such that the discovery of a new gene for any one syndrome would represent an important addition to the currently very limited list of potential genetic etiologies for this group of serious epilepsy conditions. These discoveries will deepen our understanding of the developmental pathways important in epilepsy and may also identify novel approaches to rational pharmacological treatment for epilepsy.

For those families that have children diagnosed with Ohtahara Syndrome or other early onset epilepsy such as Infantile Spasms, please consider participating in this study. You may either contact myself through this webpage or the program itself through the following email:

The webpage for the Epilepsy Genetics Program is


Infantile Spasms Registry and Genetic Studies:This is a research project by a group of doctors who wish to collect information about the causes, treatments, and outcomes of infantile spasms. Our goal is to better understand this serious type of pediatric epilepsy, and improve the care of children with infantile spasms.  We invite you to join us, to help us understand more about children with infantile spasms, discover the genetic causes of the condition, and develop better treatment.

If your child has Infantile spasms now or in the past, please follow the link provided to learn more information about this study as well and how to enroll in the study.  

The Infantile Spasms Registry website:

Genetic Studies of Developmental Brain Disorders:

This is a research project by a group of doctors who wish to collect information about the causes, treatments, and outcomes of developmental brain disorders. These disorders can have many symptoms that affect a child's development, including:

  • Autism
  • Brain malformations
  • Developmental delay
  • Epilepsy
  • Intellectual disability
  • Movement disorders
We invite you to join us, to help us understand more about children with these developmental brain disorders, discover the genetic causes, and develop better treatment.
Please visit their webpage for further information and to enroll in a study.  Genetic Studies of Developmental Brain Disorders: