Details of Disease

General Information of Disease (ID: DISBYV7O)

Disease Name Developmental and epileptic encephalopathy, 54
Synonyms epileptic encephalopathy, early infantile, 54; developmental and epileptic encephalopathy 54; EIEE54; HNRNPU-Related Disorder; DEE54
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISBYV7O: Developmental and epileptic encephalopathy, 54
Disease Identifiers
MONDO ID
MONDO_0033363
UMLS CUI
C4479319
OMIM ID
617391
MedGen ID
1392637

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
HNRNPU OTLQN1E2 Strong Autosomal dominant [1]
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References

1 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.