Details of Disease

General Information of Disease (ID: DISESJ1V)

Disease Name Developmental and epileptic encephalopathy, 53
Synonyms DEE53; EIEE53; developmental and epileptic encephalopathy 53; epileptic encephalopathy, early infantile, 53
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISESJ1V: Developmental and epileptic encephalopathy, 53
Disease Identifiers
MONDO ID
MONDO_0033362
UMLS CUI
C4479313
OMIM ID
617389
MedGen ID
1374886

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
SYNJ1 OTTE02XC Strong Autosomal recessive [1]
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References

1 Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell. 1999 Oct 15;99(2):179-88. doi: 10.1016/s0092-8674(00)81649-9.