Details of Disease | DrugMAP

General Information of Disease (ID: DIS4QCTX)

Disease Name	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Synonyms	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Definition	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
Disease Hierarchy	DISYKM6G: Childhood-onset epilepsy syndrome DIS4QCTX: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Disease Identifiers	MONDO ID MONDO_0017325 UMLS CUI C4749281 MedGen ID 1663334 Orphanet ID 289266 SNOMED CT ID 770431001

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
GRIN2A	TTKJEMQ	Supportive	Autosomal dominant	[1]
GRIN2A	TTKJEMQ	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIN2A	OTTP0KN8	Supportive	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.