Details of Disease

General Information of Disease (ID: DISI6DGB)

Disease Name Developmental and epileptic encephalopathy, 40
Synonyms
epileptic encephalopathy, early infantile, type 40; epileptic encephalopathy, early infantile, 40; EIEE40; developmental and epileptic encephalopathy 40; epileptic encephalopathy, early infantile, 40; DEE40; GUF1 early infantile epileptic encephalopathy; EIEE40; early infantile epileptic encephalopathy caused by mutation in GUF1
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.
Disease Hierarchy
DISLIAU9: West syndrome
DISZOCA3: Epileptic encephalopathy
DISI6DGB: Developmental and epileptic encephalopathy, 40
Disease Identifiers
MONDO ID
MONDO_0014895
UMLS CUI
C4310737
OMIM ID
617065
MedGen ID
934704

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
GUF1 OTUV5EFT Limited Unknown [1]
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References

1 Metabolic profiling, metabolomic and metabonomic procedures for NMR spectroscopy of urine, plasma, serum and tissue extracts. Nat Protoc. 2007;2(11):2692-703. doi: 10.1038/nprot.2007.376.