MCID: EPL170
MIFTS: 21

Epilepsy-Aphasia Spectrum

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Epilepsy-Aphasia Spectrum

MalaCards integrated aliases for Epilepsy-Aphasia Spectrum:

Name: Epilepsy-Aphasia Spectrum 26
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 74
Focal Epilepsy with Speech Disorder and with or Without Mental Retardation 26
Epilepsy, Focal, with Speech Disorder with or Without Mental Retardation 41
Focal Epilepsies with Speech and Language Disorders 26
Acquired Aphasia with Epilepsy 26
Fesd 26

Classifications:



External Ids:

ICD10 34 F80.3
UMLS 74 C3806402

Summaries for Epilepsy-Aphasia Spectrum

Genetics Home Reference : 26 The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia). The language problems can affect speaking, reading, and writing. Another feature of epilepsy-aphasia spectrum disorders is certain patterns of abnormal electrical activity in the brain, which are detected by a test called an electroencephalogram (EEG). Many people with conditions in this spectrum develop recurrent seizures (epilepsy), and some have mild to severe intellectual disability. The conditions in the epilepsy-aphasia spectrum, which all begin in childhood, include Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep syndrome (ECSWS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), intermediate epilepsy-aphasia disorder (IEAD), atypical childhood epilepsy with centrotemporal spikes (ACECTS), and childhood epilepsy with centrotemporal spikes (CECTS).

MalaCards based summary : Epilepsy-Aphasia Spectrum, also known as epilepsy, focal, with speech disorder and with or without mental retardation, is related to aphasia and centralopathic epilepsy. An important gene associated with Epilepsy-Aphasia Spectrum is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A), and among its related pathways/superpathways is Cytokine Signaling in Immune system. Affiliated tissues include brain and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Epilepsy-Aphasia Spectrum

Diseases related to Epilepsy-Aphasia Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aphasia 29.9 CNKSR2 GRIN2A
2 centralopathic epilepsy 11.1
3 epilepsy 10.4
4 epilepsy, focal, with speech disorder and with or without mental retardation 10.0
5 mental retardation, x-linked, syndromic, houge type 10.0
6 landau-kleffner syndrome 10.0

Graphical network of the top 20 diseases related to Epilepsy-Aphasia Spectrum:



Diseases related to Epilepsy-Aphasia Spectrum

Symptoms & Phenotypes for Epilepsy-Aphasia Spectrum

GenomeRNAi Phenotypes related to Epilepsy-Aphasia Spectrum according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.28 GRIN2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.28 GRIN2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.28 CNKSR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.28 CNKSR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.28 CNKSR2 GRIN2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.28 GRIN2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.28 CNKSR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.28 CNKSR2

Drugs & Therapeutics for Epilepsy-Aphasia Spectrum

Search Clinical Trials , NIH Clinical Center for Epilepsy-Aphasia Spectrum

Genetic Tests for Epilepsy-Aphasia Spectrum

Anatomical Context for Epilepsy-Aphasia Spectrum

MalaCards organs/tissues related to Epilepsy-Aphasia Spectrum:

42
Brain, Testes

Publications for Epilepsy-Aphasia Spectrum

Articles related to Epilepsy-Aphasia Spectrum:

# Title Authors Year
1
GRIN2A mutations in epilepsy-aphasia spectrum disorders. ( 29056244 )
2018
2
[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders]. ( 29896722 )
2018
3
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. ( 28098945 )
2017
4
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. ( 23933818 )
2013
5
Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders. ( 23999465 )
2013
6
Clinical genetic study of the epilepsy-aphasia spectrum. ( 23294109 )
2013
7
Acquired aphasia with epilepsy--Landau-Kleffner syndrome. ( 2453356 )
1988

Variations for Epilepsy-Aphasia Spectrum

Expression for Epilepsy-Aphasia Spectrum

Search GEO for disease gene expression data for Epilepsy-Aphasia Spectrum.

Pathways for Epilepsy-Aphasia Spectrum

Pathways related to Epilepsy-Aphasia Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 CNKSR2 GRIN2A

GO Terms for Epilepsy-Aphasia Spectrum

Cellular components related to Epilepsy-Aphasia Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.26 CNKSR2 GRIN2A
2 glutamatergic synapse GO:0098978 9.16 CNKSR2 GRIN2A
3 postsynaptic density GO:0014069 8.96 CNKSR2 GRIN2A
4 postsynaptic membrane GO:0045211 8.62 CNKSR2 GRIN2A

Sources for Epilepsy-Aphasia Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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