MCID: GRN041
MIFTS: 9

Grin2a-Related Speech Disorders and Epilepsy

Aliases & Classifications for Grin2a-Related Speech Disorders and Epilepsy

MalaCards integrated aliases for Grin2a-Related Speech Disorders and Epilepsy:

Name: Grin2a-Related Speech Disorders and Epilepsy 24

Characteristics:

GeneReviews:

24
Penetrance Grin2a-related speech disorders and epilepsy show incomplete but high penetrance and variable expressivity....

Summaries for Grin2a-Related Speech Disorders and Epilepsy

MalaCards based summary : Grin2a-Related Speech Disorders and Epilepsy is related to epilepsy, focal, with speech disorder and with or without mental retardation and apraxia. An important gene associated with Grin2a-Related Speech Disorders and Epilepsy is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A). Affiliated tissues include brain.

GeneReviews: NBK385627

Related Diseases for Grin2a-Related Speech Disorders and Epilepsy

Diseases related to Grin2a-Related Speech Disorders and Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 10.3
2 apraxia 10.3
3 epilepsy 10.3
4 focal epilepsy 10.3
5 landau-kleffner syndrome 10.3
6 benign epilepsy with centrotemporal spikes 10.3
7 speech disorder 10.3
8 encephalopathy 10.3
9 paresthesia 10.3

Graphical network of the top 20 diseases related to Grin2a-Related Speech Disorders and Epilepsy:



Diseases related to Grin2a-Related Speech Disorders and Epilepsy

Symptoms & Phenotypes for Grin2a-Related Speech Disorders and Epilepsy

Drugs & Therapeutics for Grin2a-Related Speech Disorders and Epilepsy

Search Clinical Trials , NIH Clinical Center for Grin2a-Related Speech Disorders and Epilepsy

Genetic Tests for Grin2a-Related Speech Disorders and Epilepsy

Anatomical Context for Grin2a-Related Speech Disorders and Epilepsy

MalaCards organs/tissues related to Grin2a-Related Speech Disorders and Epilepsy:

41
Brain

Publications for Grin2a-Related Speech Disorders and Epilepsy

Articles related to Grin2a-Related Speech Disorders and Epilepsy:

(show all 37)
# Title Authors PMID Year
1
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. 4
26806548 2016
2
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 4
26648591 2016
3
Cognition and brain development in children with benign epilepsy with centrotemporal spikes. 4
26337046 2015
4
The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment. 4
26097074 2015
5
New genes for focal epilepsies with speech and language disorders. 4
25921602 2015
6
GRIN2A: an aptly named gene for speech dysfunction. 4
25596506 2015
7
A systematic review of treatment outcomes for children with childhood apraxia of speech. 4
24686844 2014
8
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. 4
24903190 2014
9
Towards the identification of a genetic basis for Landau-Kleffner syndrome. 4
24828792 2014
10
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. 4
24839611 2014
11
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. 4
24372385 2014
12
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. 4
24504326 2014
13
Two patients with a GRIN2A mutation and childhood-onset epilepsy. 4
24125812 2013
14
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. 4
24083349 2013
15
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 4
23933818 2013
16
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 4
23933819 2013
17
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 4
23933820 2013
18
Epileptic encephalopathy with continuous spikes and waves during sleep. 4
23666433 2013
19
Clinical genetic study of the epilepsy-aphasia spectrum. 4
23294109 2013
20
Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. 4
23622211 2013
21
RBFOX1 and RBFOX3 mutations in rolandic epilepsy. 4
24039908 2013
22
Benign childhood focal epilepsies. 4
22946717 2012
23
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. 4
22738016 2012
24
mGluR5 and NMDA receptors drive the experience- and activity-dependent NMDA receptor NR2B to NR2A subunit switch. 4
21521618 2011
25
A review of the relationships between Landau-Kleffner syndrome, electrical status epilepticus during sleep, and continuous spike-waves during sleep. 4
21242107 2011
26
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 4
20890276 2010
27
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. 4
20384727 2010
28
Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS. 4
19292755 2009
29
[Clinical characteristics and long-term prognosis of Landau-Kleffner syndrome]. 4
16624025 2006
30
A forkhead-domain gene is mutated in a severe speech and language disorder. 4
11586359 2001
31
Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome. 4
10698330 2000
32
Autosomal dominant rolandic epilepsy with speech dyspraxia. 4
11231219 2000
33
Language dysfunction in children with Rolandic epilepsy. 4
9810559 1998
34
Landau-Kleffner syndrome. Treatment with subpial intracortical transection. 4
8595482 1995
35
Atypical benign partial epilepsy of childhood. 4
6807733 1982
36
Syndrome of acquired aphasia with convulsive disorder in children. 4
13451887 1957
37
GRIN2A-Related Speech Disorders and Epilepsy 38
27683935 2016

Variations for Grin2a-Related Speech Disorders and Epilepsy

Expression for Grin2a-Related Speech Disorders and Epilepsy

Search GEO for disease gene expression data for Grin2a-Related Speech Disorders and Epilepsy.

Pathways for Grin2a-Related Speech Disorders and Epilepsy

GO Terms for Grin2a-Related Speech Disorders and Epilepsy

Sources for Grin2a-Related Speech Disorders and Epilepsy

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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72 UMLS
73 UMLS via Orphanet
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