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Using Next-generation Sequencing in the Diagnosis of Epilepsy and/or Intellectual Disability in a Pediatric Cohorte

NCT05193890 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 69

Last updated 2022-01-18

No results posted yet for this study

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 University Hospital Center of Nancy, France.

Design:

An observational and retrospective study, at the Regional University Hospital Center of Nancy, France.

Materials and Methods:

Pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel. All of these patients were either epileptic or had intellectual disability, or both, of undetermined etiology.

Results:

We included 69 patients in this study. We identified causative mutations in 46.4% (32 of 69 patients) of this cohort after the gene panel and 52.2% (36 patients) including positive results after realization of the Clinical Exome Solution.

Conditions

Interventions

GENETIC

retrospective analysis of a panel result

retrospective analysis of a exome clinical solution

Sponsors & Collaborators

  • Central Hospital, Nancy, France

    lead OTHER

Eligibility

Min Age
1 Day
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-06-01
Primary Completion
2021-05-31
Completion
2021-05-31

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05193890 on ClinicalTrials.gov