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Genetics of Severe Early Onset Epilepsies

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2016 by Boston Children’s Hospital
Dravet Syndrome Foundation
Information provided by (Responsible Party):
Annapurna Poduri, Children's Hospital Boston Identifier:
First received: May 9, 2013
Last updated: August 1, 2016
Last verified: August 2016
Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

Epileptic Encephalopathy
Ohtahara Syndrome
Infantile Spasms
Dravet Syndrome
Malignant Migrating Partial Epilepsy of Infancy
Early Myoclonic Epileptic Encephalopathy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Genetics of Epilepsy and Related Disorders

Resource links provided by NLM:

Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • Identify new or existing causative mutations through whole exome sequencing of epilepsy patients [ Time Frame: 10 years ]
    Use whole exome sequencing to identify genetic mutations. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify mutations as causative or nonsignificant.

Biospecimen Retention:   Samples With DNA
DNA from whole blood or saliva

Estimated Enrollment: 500
Study Start Date: November 2010
Estimated Primary Completion Date: December 2020 (Final data collection date for primary outcome measure)
Epilepsy, genetics

Detailed Description:

Many children with epilepsy experience seizures which respond well to treatment. A few types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions, known as progressive epileptic encephalopathies, are particularly severe and are often difficult to treat. 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).

The investigators' current research effort is focused on children with epileptic encephalopathies, in particular Ohtahara syndrome. The investigators' goal is to identify genetic alterations (known as "mutations") that cause Ohtahara syndrome. By doing so the investigators hope to improve diagnosis and treatment for this condition. It is also possible that understanding the genetic basis of Ohtahara syndrome may in some instances make it possible to prevent it from occurring in the future.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Inclusion Criteria:

  • Epilepsy

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01858285

United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: McKenna Kelly    617-355-5254   
Principal Investigator: Annapurna Poduri, MD, MPH         
Sponsors and Collaborators
Boston Children’s Hospital
Dravet Syndrome Foundation
Principal Investigator: Annapurna Poduri, MD, MPH Boston Children’s Hospital
  More Information

Additional Information:
Responsible Party: Annapurna Poduri, Principle investigator Annapurna Poduri, MD, MPH, Boston Children's Hospital, Children's Hospital Boston Identifier: NCT01858285     History of Changes
Other Study ID Numbers: X10-04-0197
Study First Received: May 9, 2013
Last Updated: August 1, 2016

Keywords provided by Boston Children’s Hospital:

Additional relevant MeSH terms:
Brain Diseases
Spasms, Infantile
Epilepsies, Myoclonic
Epilepsies, Partial
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Epilepsy, Generalized processed this record on May 25, 2017