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Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)

Who can join

All ages · All sexes

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

About the study

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.

What is being tested

• Genomic Sequencing (genetic)

Sponsor: Boston Children's Hospital · Participants: 600 · Started: Sep 2, 2021

Contact the study team

• Beth R Sheidley, MS · Phone: 8572185533

Official record on ClinicalTrials.gov — NCT06701084

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.