Details of Disease | DrugMAP

General Information of Disease (ID: DISG5UAL)

Disease Name	Developmental and epileptic encephalopathy, 27
Synonyms	developmental and epileptic encephalopathy 27; GRIN2B early infantile epileptic encephalopathy; DEE27; epileptic encephalopathy, early infantile, 27; EIEE27; epileptic encephalopathy, early infantile, type 27; early infantile epileptic encephalopathy caused by mutation in GRIN2B
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.
Disease Hierarchy	DISLIAU9: West syndrome DISZOCA3: Epileptic encephalopathy DISG5UAL: Developmental and epileptic encephalopathy, 27
Disease Identifiers	MONDO ID MONDO_0014505 UMLS CUI C4015316 OMIM ID 616139 MedGen ID 863753

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
GRIN2B	TTN9D8E	Strong	Autosomal dominant	[1]
GRIN2B	TTN9D8E	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIN2B	OT0GODXX	Strong	Autosomal dominant	[1]
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References

1	Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3.
2	Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.