Genetics of Severe Early Onset Epilepsies

Sponsor

Boston Children's Hospital (Other)

Overall Status

Recruiting

CT.gov ID

NCT01858285

Collaborator

(none)

1,000

Enrollment

Location

241

Duration (Months)

4.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
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

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

Genetics of Epilepsy and Related Disorders

Study Start Date :

Nov 1, 2010

Anticipated Primary Completion Date :

Dec 1, 2030

Anticipated Study Completion Date :

Dec 1, 2030

Arms and Interventions

Arm	Intervention/Treatment
Epilepsy, genetics

Outcome Measures

Primary Outcome Measures

Identify new or existing causative mutations through whole exome sequencing of epilepsy patients [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.