Current Environment:


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.


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


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


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 Type

Intervention Name


Exome and/or whole genome sequencing



Min Age


Max Age


Download Date

January 16, 2024

Principal Investigator

Annapurna Poduri

Primary Contact Information

Beth R Sheidley, MS


For more information on this trial, visit


For more information and to contact the study team:

Genetics of Epilepsy and Related Disorders NCT01858285 Beth R Sheidley, MS 8572185533