Details of Disease

General Information of Disease (ID: DISYC23O)

Disease Name Developmental and epileptic encephalopathy, 56
Synonyms infantile epileptic encephalopathy 56; epileptic encephalopathy, early infantile, 56; DEE56; developmental and epileptic encephalopathy 56; EIEE56
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISYC23O: Developmental and epileptic encephalopathy, 56
Disease Identifiers
MONDO ID
MONDO_0033365
UMLS CUI
C4540034
OMIM ID
617665
MedGen ID
1621755

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
YWHAG OTYQTMPI Definitive Autosomal dominant [1]
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References

1 De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.