Details of Disease | DrugMAP

General Information of Disease (ID: DISY28TU)

Disease Name	Developmental and epileptic encephalopathy, 57
Synonyms	infantile epileptic encephalopathy 57; DEE57; epileptic encephalopathy, early infantile, 57; developmental and epileptic encephalopathy 57; EIEE57
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISY28TU: Developmental and epileptic encephalopathy, 57
Disease Identifiers	MONDO ID MONDO_0033366 UMLS CUI C4540411 OMIM ID 617771 MedGen ID 1621769

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNT2	TTLU5FO	Strong	Autosomal dominant	[1]
KCNT2	TTLU5FO	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNT2	OTFTL0BQ	Strong	Autosomal dominant	[1]
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References

1	A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088.
2	De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.