Infantile Epileptic Spasms Syndrome
Conditions
Interventions
Observation group:N/A
Sponsors
Xiangya Hospital of Central South University
Eligibility
Sex/Gender
All
Age
No minimum to 60 Years
Inclusion criteria
Inclusion criteria: 1: Meets diagnostic criteria of the infantile epileptic spasms sydrome as proposed by the International League Against Epilepsy in 2022 2: Acquired or structural etiologies have been excluded, and comprehensive genetic testing (including family-based whole-exome sequencing and CNV/CMA) has been conducted with negative results 3: The research subjects have agreed to provide the original sequencing data from previous genetic tests
Exclusion criteria
Exclusion criteria: 1: Sample information is unidentifiable or cannot be traced 2: For any reason, the samples from the subject and/or either parent are unable to be processed in this study (e.g., original data do not meet the requirements, non-genetic parentage, etc.) 3: Either the subject and/or their legal guardian voluntarily request to withdraw from the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Diagnostic rate; | — |
Secondary
| Measure | Time frame |
|---|---|
| Candidate Pathogenic Variant; | — |
Countries
China
Contacts
Public ContactJing Peng
Xiangya Hosipital Central South University
Outcome results
None listed