Neurology | Epilepsy and Seizures

Genetics of Epilepsy and Related Disorders

Overview
This is an observational study that aims to better understand the genetic underpinnings contributing to epilepsy and related disorders. We do this through a method of genetic testing called whole exome sequencing (WES), which analyzes DNA variations found in the 20,000 genes that make up our protein-coding genetic material.

Who Can Participate?
We are enrolling individuals with early onset epilepsies and, when possible, both parents.
We have ongoing research efforts involving epilepsy syndromes including: Ohtahara Syndrome, Infantile Spasms, Doose Syndrome, Early Myoclonic Epilepsy, Early Infantile Epileptic Encephalopathy, Early Onset Epileptic Encephalopathy, Febrile Infection-Related Epilepsy Syndrome (FIRES), and Epilepsy of Infancy with Migrating Focal Seizures, as well as epilepsy-associated genes including: SCN1A, SCN2A, SCN8A, KCNQ2, PCDH19, PRRT2, DEPDC5, KCNT1, and more.

Participation Details
Participation in this study includes reviewing consent materials with a member of the study staff, providing DNA samples in the form of saliva or blood for DNA sequencing, and completion of an epilepsy history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital.

Research Contact
Meredith Park at Meredith.Park@childrens.harvard.edu or 617-355-5254.

TriVox Health Epilepsy Module

TriVox Health is a web-based patient management and monitoring system designed to track patients’ disease symptoms and response to therapy over time. TriVox enables clinics to use electronic surveys to gather data remotely from multiple responders, including patients, parents/guardians, school personnel and ancillary providers, and view the responses in a timely manner via graphical, tabular, and narrative summary formats. This quality improvement (QI) initiative will implement TriVox Health as the standard of care for all patients who receive care for ADHD, asthma, autism, depression, and epilepsy within the following ambulatory specialties: Adolescent Medicine, Allergy-Immunology, CHPCC, Developmental Medicine, Neurology, Psychiatry, and Pulmonary. Patients and families will use TriVox Health to report on patient health status (as defined by each disease module) as soon as they are enrolled into the system, and will complete clinically-relevant questionnaires at routine intervals. Providers will use the information collected through TriVox Health to inform their clinical care of the patient/family.