Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

MedGen UID:: 1663334
•Concept ID:: C4749281
•: Disease or Syndrome

Synonyms:	Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation; Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation; early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
SNOMED CT:	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (770431001); Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (770431001); Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation (770431001)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0017325
Orphanet:	ORPHA289266

Definition

A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Childhood-onset epilepsy syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Recent clinical studies

Prognosis

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K
Nat Genet 2010 Nov;42(11):1021-6. Epub 2010 Oct 3 doi: 10.1038/ng.677. PMID: 20890276

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