Genetic Testing to Find Causes of Infant Epilepsy
Tests genomic sequencing to find genetic causes of seizures in infants.
Plain-language title generated from the registry record
Registry title: Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
Key facts
- Where
- Boston, United StatesSee the site
Where in United States
- Boston Children's HospitalBoston, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Boston Children's Hospital
- Trial code
- NCT06701084
- Record updated
- 27 April 2026
- Original description
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.Read full original descriptionShow less
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)
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.
Inclusion: Seizure onset at less than 12 months of age; Enrollment within 6 weeks of seizure-related presentation; Patient at Boston Children's Hospital.
Exclusion: Deceased prior to enrollment; Parent Criteria Inclusion Criteria - Parent of eligible infant (see above); 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); Not the legal guardian of the eligible infant.
Infant Criteria.