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Recruiting NCT06701084

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

Trial Parameters

Condition Neonatal Epilepsy
Sponsor Boston Children's Hospital
Study Type INTERVENTIONAL
Phase N/A
Enrollment 600
Sex ALL
Min Age N/A
Max Age N/A
Start Date 2021-09-02
Completion 2029-11
Interventions
Genomic Sequencing

Brief 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.

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

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