Details of Disease

General Information of Disease (ID: DIS2YWQG)

Disease Name Developmental and epileptic encephalopathy 107
Synonyms DEE107; developmental and epileptic encephalopathy 107
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS2YWQG: Developmental and epileptic encephalopathy 107
Disease Identifiers
MONDO ID
MONDO_0031055
UMLS CUI
C5774215
OMIM ID
620033
MedGen ID
1823988

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
NAPB OTCUENKD Strong Autosomal recessive [1]
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References

1 NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin Genet. 2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28.