Genetics of Epilepsy and Related Disorders

Launched by BOSTON CHILDREN'S HOSPITAL · May 16, 2013

Keywords

ClinConnect Summary

The Genetics of Epilepsy and Related Disorders trial at Boston Children's Hospital is studying how genetics may play a role in different types of epilepsy and related conditions. Researchers aim to understand why people with epilepsy can have such a wide range of symptoms and outcomes. By learning more about the genetic factors involved, they hope to provide better information and support for patients and their families.

This trial is currently looking for participants of all ages who have been diagnosed with epilepsy. To qualify, some individuals must have had their first seizure before they were 12 months old and enroll within six weeks of their first seizure. Others need to have a confirmed diagnosis of epilepsy without a known genetic cause. Participants will have the chance to contribute to important research that could lead to new insights and treatments for epilepsy. If you or a family member is interested, it's a great opportunity to help advance our understanding of this condition.

Gender

ALL

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