Summary
The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.
Conditions
Neonatal Epilepsy, Infantile Epilepsy
Recruitment Status
RECRUITING
Detailed Description
Infantile epilepsies are common, affecting 1 in 1000 infants, and are associated with significant morbidity, mortality, healthcare costs, and caregiver burden. Although most infantile epilepsies are believed to have genetic causes, most infants with epilepsy remain genetically "unsolved" and the full genetic landscape of infantile epilepsies is unknown, which limits our ability to develop precision therapies and ultimately improve outcomes for this vulnerable population. This study aims to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families, contributing to knowledge that will inform our scientific understanding of normal and abnormal brain development and guide clinical care and implementation of precision medicine for infants with epilepsy.
Eligibility Criteria
Infant Criteria
Inclusion Criteria:
* Seizure onset at less than 12 months of age
* Enrollment within 6 weeks of seizure-related presentation
* Patient at Boston Children's Hospital
Exclusion Criteria:
* Simple febrile seizures
* Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury)
* Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex)
* Deceased prior to enrollment
Parent Criteria Inclusion Criteria - Parent of eligible infant (see above)
Exclusion Criteria
- Not the legal guardian of the eligible infant
Intervention
Intervention Type
Intervention Name
GENETIC
Genomic Sequencing
Phase
NA
Gender
ALL
Min Age
N/A
Max Age
N/A
Download Date
2024-11-22
Principal Investigator
N/A
Primary Contact Information
beth.sheidley@childrens.harvard.edu
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For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: