Details of Disease

General Information of Disease (ID: DISITA2G)

Disease Name Developmental and epileptic encephalopathy 108
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISITA2G: Developmental and epileptic encephalopathy 108
Disease Identifiers
MONDO ID
MONDO_0859314
UMLS CUI
C5774253
OMIM ID
620115
MedGen ID
1824026

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAST3 OT6VVQ84 Strong Autosomal dominant [1]
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References

1 Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13.