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

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.

Conditions

Neonatal Epilepsy, Infantile Epilepsy

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Neonatal Epilepsy
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Seizure onset at less than 12 months of age
  • * Enrollment within 6 weeks of seizure-related presentation
  • * Patient at Boston Children's Hospital
  • * 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Boston Children's Hospital,

Alissa M D'Gama, MD, PhD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2029-11