Epilepsy, Gene Abnormality, Hypoxic-Ischemic Encephalopathy, Intracranial Hemorrhage, Neonatal Seizure, Stroke
Conditions
Brief summary
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.
Detailed description
Neonatal seizures due to brain injury (acute provoked seizures) are associated with high risk of post-neonatal epilepsy. Although clinical risk factors can help predict which children are at highest risk for epilepsy, little is known about how genetic factors modify the risk for epilepsy after acute provoked neonatal seizures. The Neonatal Seizure Registry - GENetics of Epilepsy (NSR-GENE) study will test the central hypothesis that children who develop post-neonatal epilepsy are more likely to have pathogenic variants in epilepsy genes, and enrichment in single nucleotide polymorphisms within key inflammatory, neurotransmitter transport and homeostasis, and neurotrophic gene pathways as compared with children who do not develop unprovoked seizures before age five years, and that these can be added to traditional clinical risk factors to predict epilepsy after neonatal seizures.
Interventions
None listed
Sponsors
University of California, San Francisco
National Institute of Neurological Disorders and Stroke (NINDS)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Children \< 44 weeks postmenstrual age at seizure onset * Seizures due to an acute provoked cause (including, but not limited to HIE, ischemic stroke, or intracranial hemorrhage) * Parent(s) who are English or Spanish literate (with interpreter) * Birthdate between 3/1/2023 and 1/1/2011 * One biological parent willing to participate * Enrolled in NSR-II * Fulfilling all NSR-II eligibility criteria and evaluated at an NSR center for neonatal seizures or enrolled in NSR-RISE
Exclusion criteria
* Risk for adverse outcome independent of seizures and underlying brain injury (including but not limited to inborn errors of metabolism, fetal infection, brain malformation) * Transient cause for seizures (e.g., hypoglycemia without brain injury, hyponatremia, hypocalcemia) * Neonatal-onset epilepsy syndromes * Deceased
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with post-neonatal epilepsy | 5 years of age | The presence or absence of a post-neonatal epilepsy diagnosis at age 5 in children with a prior history of acute symptomatic neonatal seizures will be determined by telephone interview with the parent and corroborated by medical record review |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORHannah C Glass, MDCM, MAS
University of California, San Francisco
Outcome results
None listed