Genetics of Severe Early Onset Epilepsies
|Epilepsy Epileptic Encephalopathy Ohtahara Syndrome Infantile Spasms Dravet Syndrome Malignant Migrating Partial Epilepsy of Infancy Early Myoclonic Epileptic Encephalopathy PCDH19-related Epilepsy and Related Conditions|
|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 ]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
|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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01858285
|United States, Massachusetts|
|Boston Children's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Meredith Park 617-355-5254 firstname.lastname@example.org|
|Principal Investigator: Annapurna Poduri, MD, MPH|
|Principal Investigator:||Annapurna Poduri, MD, MPH||Boston Children’s Hospital|