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 24
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 69
Focal Epilepsy with Speech Disorder and with or Without Mental Retardation 24
Focal Epilepsies with Speech and Language Disorders 24
Acquired Aphasia with Epilepsy 24
Fesd 24

Classifications:



External Ids:

ICD10 32 F80.3
UMLS 69 C3806402

Summaries for Epilepsy-Aphasia Spectrum

Genetics Home Reference : 24 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 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 aphasia 10.3
2 epilepsy 10.3
3 epilepsy, focal, with speech disorder and with or without mental retardation 9.9
4 landau-kleffner syndrome 9.9

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:

38
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
The Epilepsy-Aphasia Spectrum: From Landau-Kleffner Syndrome to Rolandic Epilepsy. ( 28628937 )
2017
3
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. ( 28098945 )
2017
4
Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders. ( 23999465 )
2013
5
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. ( 23933818 )
2013
6
Clinical genetic study of the epilepsy-aphasia spectrum. ( 23294109 )
2013

Variations for Epilepsy-Aphasia Spectrum

ClinVar genetic disease variations for Epilepsy-Aphasia Spectrum:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2A NM_000833.4(GRIN2A): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs387906637 GRCh37 Chromosome 16, 10032171: 10032171
2 GRIN2A NM_000833.4(GRIN2A): c.1845C> A (p.Asn615Lys) single nucleotide variant Pathogenic rs397518447 GRCh37 Chromosome 16, 9923442: 9923442
3 GRIN2A NM_000833.4(GRIN2A): c.1945C> G (p.Leu649Val) single nucleotide variant Pathogenic rs397514557 GRCh37 Chromosome 16, 9923342: 9923342
4 GRIN2A NM_000833.4(GRIN2A): c.1655C> G (p.Pro552Arg) single nucleotide variant Pathogenic rs397518450 GRCh37 Chromosome 16, 9928084: 9928084
5 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh37 Chromosome 16, 10031815: 10031815
6 GRIN2A NM_000833.4(GRIN2A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397518466 GRCh37 Chromosome 16, 10274267: 10274267
7 GRIN2A NM_000833.4(GRIN2A): c.2829C> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs397518467 GRCh37 Chromosome 16, 9858572: 9858572
8 GRIN2A NM_000833.4(GRIN2A): c.1592C> T (p.Thr531Met) single nucleotide variant Pathogenic rs397518468 GRCh37 Chromosome 16, 9934563: 9934563
9 GRIN2A NM_000833.4(GRIN2A): c.1123-2A> G single nucleotide variant Pathogenic rs397518469 GRCh37 Chromosome 16, 9943820: 9943820
10 GRIN2A NM_000833.4(GRIN2A): c.1553G> A (p.Arg518His) single nucleotide variant Pathogenic/Likely pathogenic rs397518470 GRCh37 Chromosome 16, 9934602: 9934602
11 GRIN2A NM_000833.4(GRIN2A): c.1954T> G (p.Phe652Val) single nucleotide variant Pathogenic rs397518471 GRCh37 Chromosome 16, 9923333: 9923333
12 GRIN2A NM_000833.4(GRIN2A): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs397518472 GRCh37 Chromosome 16, 9916248: 9916248
13 GRIN2A NM_000833.4(GRIN2A): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs762659685 GRCh38 Chromosome 16, 9822286: 9822286
14 GRIN2A NM_000833.4(GRIN2A): c.2927A> G (p.Asn976Ser) single nucleotide variant Pathogenic rs886039239 GRCh37 Chromosome 16, 9858474: 9858474
15 GRIN2A NM_000833.4(GRIN2A): c.2890delC (p.Gln964Lysfs) deletion Pathogenic rs886042168 GRCh37 Chromosome 16, 9858511: 9858511
16 GRIN2A NM_000833.4(GRIN2A): c.3813G> A (p.Trp1271Ter) single nucleotide variant Pathogenic rs886043129 GRCh37 Chromosome 16, 9857588: 9857588
17 GRIN2A NM_000833.4(GRIN2A): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs1057524089 GRCh37 Chromosome 16, 10032336: 10032336
18 GRIN2A NM_000833.4(GRIN2A): c.1734C> G (p.Tyr578Ter) single nucleotide variant Pathogenic rs1060503228 GRCh38 Chromosome 16, 9834148: 9834148
19 GRIN2A NC_000016.9: g.(?_10273835)_(10274288_?)del deletion Pathogenic GRCh37 Chromosome 16, 10273835: 10274288

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

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