MCID: EPL170
MIFTS: 16

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 25
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 73
Focal Epilepsy with Speech Disorder and with or Without Mental Retardation 25
Epilepsy, Focal, with Speech Disorder with or Without Mental Retardation 40
Focal Epilepsies with Speech and Language Disorders 25
Acquired Aphasia with Epilepsy 25
Fesd 25

Classifications:



External Ids:

ICD10 33 F80.3
UMLS 73 C3806402

Summaries for Epilepsy-Aphasia Spectrum

Genetics Home Reference : 25 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 epilepsy, focal, with speech disorder and with or without mental retardation and centralopathic epilepsy. An important gene associated with Epilepsy-Aphasia Spectrum is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A). Affiliated tissues include testes and brain.

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 epilepsy, focal, with speech disorder and with or without mental retardation 11.6
2 centralopathic epilepsy 10.9
3 aphasia 10.3
4 epilepsy 10.3
5 landau-kleffner syndrome 9.9

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



Diseases related to Epilepsy-Aphasia Spectrum

Symptoms & Phenotypes for Epilepsy-Aphasia Spectrum

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:

41
Testes, Brain

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
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. ( 28098945 )
2017
3
The Epilepsy-Aphasia Spectrum: From Landau-Kleffner Syndrome to Rolandic Epilepsy. ( 28628937 )
2017
4
Clinical genetic study of the epilepsy-aphasia spectrum. ( 23294109 )
2013
5
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. ( 23933818 )
2013
6
Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders. ( 23999465 )
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

GO Terms for Epilepsy-Aphasia Spectrum

Sources for Epilepsy-Aphasia Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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