Details of Disease | DrugMAP

General Information of Disease (ID: DIS9Q0IS)

Disease Name	Developmental and epileptic encephalopathy, 86
Synonyms	epileptic encephalopathy, early infantile, 86; EIEE86; DEE86; developmental and epileptic encephalopathy 86; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS9Q0IS: Developmental and epileptic encephalopathy, 86
Disease Identifiers	MONDO ID MONDO_0030054 UMLS CUI C5394462 OMIM ID 618910 MedGen ID 1711964

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
DALRD3	OTU79VIP	Limited	Autosomal recessive	[1]
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References

1	DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification. Nat Commun. 2020 May 19;11(1):2510. doi: 10.1038/s41467-020-16321-6.