Summary
Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to epilepsy and related disorders. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.
Conditions
Epilepsy, Epileptic Encephalopathy, Ohtahara Syndrome, Infantile Spasms, Dravet Syndrome, Early Myoclonic Epileptic Encephalopathy, PCDH19-related Epilepsy and Related Conditions, KCNQ2-Related Epileptic Encephalopathy, Epilepsy of Infancy With Migrating Focal Seizures (Disorder)
Recruitment Status
Recruiting
Detailed Description
Many individuals with epilepsy experience seizures which respond well to treatment. Some 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 are often difficult to treat. The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause epilepsy. By doing so the investigators hope to improve diagnosis and treatment for this epilepsy. We have two specific aims: Identifying genetic findings in patients with epilepsy and related disorders. Correlating genetic findings with epilepsy phenotypes.
Eligibility Criteria
For Gene-STEPS:
inclusion: seizure onset at less than 12 months of age, must be enrolled within 6 weeks of first seizure-related presentation to BCH exclusion: simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology
For BCH CRDC:
inclusion: diagnosis of epilepsy, patient at BCH exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain
For Core cohort:
inclusion: diagnosis of epilepsy exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain
For Phenotyping cohort:
inclusion: diagnosis of a genetic epilepsy exclusion: no genetic diagnosis or diagnosis of other genetic condition that does not include epilepsy phenotype
Intervention
Intervention Type
Intervention Name
Genetic
Exome and/or whole genome sequencing
Gender
All
Min Age
N/A
Max Age
N/A
Download Date
January 16, 2024
Principal Investigator
Annapurna Poduri
Primary Contact Information
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: