Details of Disease | DrugMAP

General Information of Disease (ID: DIS2R0FL)

Disease Name	Developmental and epileptic encephalopathy, 5
Synonyms	developmental and epileptic encephalopathy 5; DEE5; epileptic encephalopathy, early infantile, 5; early infantile epileptic encephalopathy caused by mutation in SPTAN1; SPTAN1 early infantile epileptic encephalopathy; EIEE5; epileptic encephalopathy, early infantile, type 5
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.
Disease Hierarchy	DISLIAU9: West syndrome DISZOCA3: Epileptic encephalopathy DIS2R0FL: Developmental and epileptic encephalopathy, 5
Disease Identifiers	MONDO ID MONDO_0013277 UMLS CUI C3150731 OMIM ID 613477 MedGen ID 462081

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
SPTAN1	OT6VY3A3	Definitive	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.