Details of Disease | DrugMAP

General Information of Disease (ID: DISHSSN4)

Disease Name	Developmental and epileptic encephalopathy, 38
Synonyms	DEE38; EIEE38; developmental and epileptic encephalopathy 38; ARV1 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 38; EIEE38; epileptic encephalopathy, early infantile, type 38; early infantile epileptic encephalopathy caused by mutation in ARV1; epileptic encephalopathy, early infantile, 38
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISHSSN4: Developmental and epileptic encephalopathy, 38
Disease Identifiers	MONDO ID MONDO_0014868 UMLS CUI C4310762 OMIM ID 617020 MedGen ID 934729

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
ARV1	OTN13TYV	Strong	Autosomal recessive	[1]
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References

1	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.