MCID: GRN056
MIFTS: 10

Grin1-Related Neurodevelopmental Disorder

Categories: Neuronal diseases

Aliases & Classifications for Grin1-Related Neurodevelopmental Disorder

MalaCards integrated aliases for Grin1-Related Neurodevelopmental Disorder:

Name: Grin1-Related Neurodevelopmental Disorder 24
Grin1-Related Developmental Epileptic Encephalopathy 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of grin1-related neurodevelopmental disorder is thought to be 100%.

Classifications:



Summaries for Grin1-Related Neurodevelopmental Disorder

MalaCards based summary : Grin1-Related Neurodevelopmental Disorder, also known as grin1-related developmental epileptic encephalopathy, is related to polymicrogyria with or without vascular-type ehlers-danlos syndrome and polymicrogyria. An important gene associated with Grin1-Related Neurodevelopmental Disorder is GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1).

GeneReviews: NBK542807

Related Diseases for Grin1-Related Neurodevelopmental Disorder

Diseases related to Grin1-Related Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
2 polymicrogyria 10.3
3 encephalopathy 10.3
4 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 movement disease 10.2
7 hypotonia 10.2
8 spasticity 10.2

Graphical network of the top 20 diseases related to Grin1-Related Neurodevelopmental Disorder:



Diseases related to Grin1-Related Neurodevelopmental Disorder

Symptoms & Phenotypes for Grin1-Related Neurodevelopmental Disorder

Drugs & Therapeutics for Grin1-Related Neurodevelopmental Disorder

Search Clinical Trials , NIH Clinical Center for Grin1-Related Neurodevelopmental Disorder

Genetic Tests for Grin1-Related Neurodevelopmental Disorder

Anatomical Context for Grin1-Related Neurodevelopmental Disorder

Publications for Grin1-Related Neurodevelopmental Disorder

Articles related to Grin1-Related Neurodevelopmental Disorder:

(show all 32)
# Title Authors PMID Year
1
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. 4
30355546 2018
2
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. 4
29307790 2018
3
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 4
29453417 2018
4
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 4
29720203 2018
5
De Novo Mutations and Rare Variants Occurring in NMDA Receptors. 4
29756080 2018
6
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. 4
29365063 2018
7
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy. 4
29194067 2018
8
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. 4
28759686 2017
9
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 4
28377535 2017
10
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. 4
28228639 2017
11
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 4
28389307 2017
12
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 4
28051072 2017
13
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. 4
29190809 2017
14
Mutations in HECW2 are associated with intellectual disability and epilepsy. 4
27334371 2016
15
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 4
26795593 2016
16
Clinical application of whole-exome sequencing across clinical indications. 4
26633542 2016
17
Whole exome sequencing in patients with white matter abnormalities. 4
27159321 2016
18
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 4
27164704 2016
19
Novel genetic causes for cerebral visual impairment. 4
26350515 2016
20
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 4
26482601 2016
21
Timing, rates and spectra of human germline mutation. 4
26656846 2016
22
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 4
25590979 2015
23
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 4
25356970 2015
24
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 4
25864721 2015
25
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 4
25167861 2014
26
De novo mutations in epileptic encephalopathies. 4
23934111 2013
27
NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease. 4
23686171 2013
28
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 4
21376300 2011
29
Glutamate receptor ion channels: structure, regulation, and function. 4
20716669 2010
30
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 4
19344873 2009
31
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. 38
31176596 2019
32
GRIN1-Related Neurodevelopmental Disorder 38
31219694 2019

Variations for Grin1-Related Neurodevelopmental Disorder

Expression for Grin1-Related Neurodevelopmental Disorder

Search GEO for disease gene expression data for Grin1-Related Neurodevelopmental Disorder.

Pathways for Grin1-Related Neurodevelopmental Disorder

GO Terms for Grin1-Related Neurodevelopmental Disorder

Sources for Grin1-Related Neurodevelopmental Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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