Details of Disease | DrugMAP

General Information of Disease (ID: DISY66K2)

Disease Name	Developmental and epileptic encephalopathy, 37
Synonyms	EIEE37; epileptic encephalopathy, early infantile, 37; DEE37; developmental and epileptic encephalopathy 37; FRRS1L early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 37; EIEE37; epileptic encephalopathy, early infantile, type 37; early infantile epileptic encephalopathy caused by mutation in FRRS1L
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISY66K2: Developmental and epileptic encephalopathy, 37
Disease Identifiers	MONDO ID MONDO_0014859 UMLS CUI C4310770 OMIM ID 616981 MedGen ID 934737

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
FRRS1L	OT24ABVC	Strong	Autosomal recessive	[1]
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References

1	Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.