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)

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.

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.

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