Epilepsy-Aphasia Spectrum (FESD)

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Epilepsy-Aphasia Spectrum

MalaCards integrated aliases for Epilepsy-Aphasia Spectrum:

Name: Epilepsy-Aphasia Spectrum 43
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 70
Focal Epilepsy with Speech Disorder and with or Without Mental Retardation 43
Focal Epilepsies with Speech and Language Disorders 43
Acquired Aphasia with Epilepsy 43
Fesd 43


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UMLS 70 C3806402

Summaries for Epilepsy-Aphasia Spectrum

MedlinePlus Genetics : 43 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).LKS and ECSWS are at the severe end of the spectrum. Both usually feature a characteristic abnormal pattern of electrical activity in the brain called continuous spike and waves during slow-wave sleep (CSWS). This pattern occurs while the affected child is sleeping, specifically during deep (slow-wave) sleep.Most children with LKS develop normally in early childhood, although some speak later than their peers. However, affected children lose language skills beginning around age 5. This loss typically begins with verbal agnosia, which is the inability to understand speech. As LKS develops, the ability to express speech is also impaired. Approximately 70 percent of children with LKS have seizures, typically of a type described as focal (or partial) because the seizure activity occurs in specific regions of the brain rather than affecting the entire brain.About half of children with ECSWS develop normally in early childhood, while others have delayed development of speech and motor skills. Although children with ECSWS typically lose a range of previously acquired skills, including those involved in language, movement, learning, or behavior, not everyone with ECSWS has aphasia. Seizures occur in approximately 80 percent of children with ECSWS and can include a variety of types, such as atypical absence seizures, which involve short periods of staring blankly; hemiclonic seizures, which cause rhythmic jerking of one side of the body; or generalized tonic-clonic seizures, which cause stiffening and rhythmic jerking of the entire body.CECTS is at the mild end of the epilepsy-aphasia spectrum. Affected children have rolandic seizures; these seizures are triggered by abnormal activity in an area of the brain called the rolandic region, which is part of the cerebrum. The seizures, which usually occur during sleep, cause twitching, numbness, or tingling of the face or tongue, often causing drooling and impairing speech. In most people with CECTS, the seizures disappear by the end of adolescence. Most affected individuals develop normally, although some have difficulty coordinating the movements of the mouth and tongue needed for clear speech (dyspraxia) or impairment of language skills.The other conditions in the epilepsy-aphasia spectrum are less common and fall in the middle of the spectrum. Children with IEAD usually have delayed development or regression of language skills. Some have seizures and most have abnormal electrical activity in their brains during sleep, although it is not prominent enough to be classified as CSWS. ACECTS features seizures and developmental regression that can affect movement, language, and attention. Children with ACECTS have abnormal electrical activity in the brain that is sometimes classified as CSWS. ADRESD is characterized by focal seizures, speech difficulties due to dyspraxia, and learning disability.

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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Epilepsy-Aphasia Spectrum is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A). The drug Propofol has been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Epilepsy-Aphasia Spectrum

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:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.36 CNKSR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-154 9.36 CNKSR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.36 GRIN2A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.36 CNKSR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.36 CNKSR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.36 GRIN2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.36 GRIN2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.36 CNKSR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.36 GRIN2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.36 CNKSR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.36 CNKSR2

Drugs & Therapeutics for Epilepsy-Aphasia Spectrum

Drugs for Epilepsy-Aphasia Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 FES Cycling Cost-Effectiveness Analysis in Rehabilitation for Persons Affected by Complete Spinal Cord Injury, an Experience From Two Italian Hospitals Completed NCT04592679
2 Clinical Outcome of Endoscopic Treatment for Zenker's Diverticulum Recruiting NCT03948438

Search 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:

Brain, Tongue, Spinal Cord

Publications for Epilepsy-Aphasia Spectrum

Articles related to Epilepsy-Aphasia Spectrum:

(show all 18)
# Title Authors PMID Year
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. 61
33387902 2021
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61
32289570 2020
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder. 61
33240831 2020
Impaired vocal communication, sleep-related discharges, and transient alteration of slow-wave sleep in developing mice lacking the GluN2A subunit of N-methyl-d-aspartate receptors. 61
31158310 2019
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. 61
31149903 2019
GRIN2A-related disorders: genotype and functional consequence predict phenotype. 61
30544257 2019
Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a. 61
30146685 2018
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. 61
29976148 2018
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. 61
29644724 2018
[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders]. 61
29896722 2018
GRIN2A mutations in epilepsy-aphasia spectrum disorders. 61
29056244 2018
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. 61
28098945 2017
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit. 61
28611597 2017
New genes for focal epilepsies with speech and language disorders. 61
25921602 2015
Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders. 61
23999465 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 61
23933818 2013
Clinical genetic study of the epilepsy-aphasia spectrum. 61
23294109 2013
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. 61
22220564 2012

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

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 GRIN2A CNKSR2
2 glutamatergic synapse GO:0098978 9.16 GRIN2A CNKSR2
3 postsynaptic density GO:0014069 8.96 GRIN2A CNKSR2
4 postsynaptic membrane GO:0045211 8.62 GRIN2A CNKSR2

Sources for Epilepsy-Aphasia Spectrum

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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