Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
genetic developmental and epileptic encephalopathy
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
10/20/2017
Evidence/Notes:

**Note: In September 2021, the ClinGen Epilepsy GCEP opted to change the disease term on this curation from infantile epilepsy syndrome to developmental and epileptic encephalopathy. The evidence summary below reflects this change. The original evidence and conclusion remains the same; therefore, the original date of approval has not been changed. **

Approved by the ClinGen Epilepsy Expert Panel 10/20/2017.

PubMed IDs:
8108429 9545644 10657302 18469812 18703708 26280581 26918652
Public Report:
Assertion Criteria:
Submitter Submitted Date:
12/05/2025

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