Status:
COMPLETED
Using Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in a Pediatric Cohorte
Lead Sponsor:
Central Hospital, Nancy, France
Conditions:
Epilepsy
Intellectual Disability
Eligibility:
All Genders
1-17 years
Brief Summary
ABSTRACT Background and Aims: To determine the diagnostic performance of the epilepsy and intellectual disability panel used in the pediatric population, starting in June 2019, at the Regional Unive...
Detailed Description
Epilepsy and intellectual disability are common and highly heterogeneous neurodevelopmental disorders in children. Their respective prevalence are 3.2 to 5.1/1000 (1,2) and 1.3 to 2.2% (3). An epilep...
Eligibility Criteria
Inclusion
- We included in our study all pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel between June 2019 and May 2021. All of these patients were either epileptic or had intellectual disability, or both, of undetermined or genetic presumed etiology.
Exclusion
- We excluded i) patients older than 18 years, ii) those for whom the indication for genetic analysis was not epilepsy or intellectual disability iii) patients not followed up at the Regional University Hospital Center of Nancy, France.
Key Trial Info
Start Date :
June 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 31 2021
Estimated Enrollment :
69 Patients enrolled
Trial Details
Trial ID
NCT05193890
Start Date
June 1 2019
End Date
May 31 2021
Last Update
January 18 2022
Active Locations (1)
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1
Calina Todosi
Vandœuvre-lès-Nancy, France, 54500