Details of Disease | DrugMAP

General Information of Disease (ID: DISUI6PS)

Disease Name	Developmental and epileptic encephalopathy, 17
Synonyms	GNAO1 encephalopathy; early infantile epileptic encephalopathy caused by mutation in GNAO1; developmental and epileptic encephalopathy 17; epileptic encephalopathy, early infantile, 17; GNAO1 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 17; DEE17; EIEE17; early infantile epileptic encephalopathy-17
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISUI6PS: Developmental and epileptic encephalopathy, 17
Disease Identifiers	MONDO ID MONDO_0014199 UMLS CUI C3809606 OMIM ID 615473 MedGen ID 815936

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNAO1	TTAXD8Z	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
GNAO1	OTPB1RGK	Strong	Autosomal dominant	[2]
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References

1	Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.PLoS One. 2019 Jan 25;14(1):e0211066. doi: 10.1371/journal.pone.0211066. eCollection 2019.
2	De Novo mutations in GNAO1, encoding a Go subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29.