Genetics of Severe Early Onset Epilepsies
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.
Malignant Migrating Partial Epilepsy of Infancy
Early Myoclonic Epileptic Encephalopathy
|Study Design:||Observational Model: Cohort
Time Perspective: Cross-Sectional
|Official Title:||Genetics of Epilepsy and Related Disorders|
- Identify new or existing causative mutations through whole exome sequencing of epilepsy patients [ Time Frame: 10 years ] [ Designated as safety issue: No ]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
|Study Start Date:||November 2010|
|Estimated Primary Completion Date:||December 2020 (Final data collection date for primary outcome measure)|
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.
|United States, Massachusetts|
|Boston Children's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Rebecca Pinsky 617-355-5254 firstname.lastname@example.org|
|Principal Investigator: Annapurna Poduri, MD, MPH|
|Principal Investigator:||Annapurna Poduri, MD, MPH||Boston Children's Hospital|