Details of Disease | DrugMAP

General Information of Disease (ID: DIS9QRKG)

Disease Name	Developmental and epileptic encephalopathy, 30
Synonyms	SIK1 early infantile epileptic encephalopathy; EIEE30; DEE30; epileptic encephalopathy, early infantile, 30; developmental and epileptic encephalopathy 30; early infantile epileptic encephalopathy caused by mutation in SIK1; epileptic encephalopathy, early infantile, type 30
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.
Disease Hierarchy	DISLIAU9: West syndrome DIS1YXVQ: Early myoclonic encephalopathy DISZOCA3: Epileptic encephalopathy DIS9QRKG: Developmental and epileptic encephalopathy, 30
Disease Identifiers	MONDO ID MONDO_0014595 UMLS CUI C4225360 OMIM ID 616341 MedGen ID 898954

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
SIK1	TT1H6LC	Strong	Autosomal dominant	[1]
SIK1	TT1H6LC	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIK1	OT6FCHME	Strong	Autosomal dominant	[1]
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References

1	De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013.