Epileptic encephalopathy with continuous spike-and-wave during sleep

General Information (adopted from Orphanet):

Synonyms, Signs: APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME, INCLUDED
RESDAD, INCLUDED
CSWS, INCLUDED
BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES, INCLUDED
BECTS, INCLUDED
LKS, INCLUDED
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT, INCLUDED
ADRESD, INCLUDED
CSWSS, INCLUDED
CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME, INCLUDED
FESD
ESES
Electrical status epilepticus during slow sleep
CSWSS syndrome
Number of Symptoms 14
OrphanetNr: 725
OMIM Id: 245570
ICD-10: F80.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Childhood-onset epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
2
(HPO:0011098) Speech apraxia 9 / 7739
3
(HPO:0002357) Dysphasia 33 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001328) Specific learning disability 114 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0000750) Delayed speech and language development 197 / 7739
8
(HPO:0007359) Focal seizures 27 / 7739
9
(OMIM) Continuous spike-waves during slow-wave sleep 2 / 7739
10
(OMIM) [DEL]Autistic features 43 / 7739
11
(OMIM) EEG shows centrotemporal spike-wave discharges 2 / 7739
12
(OMIM) Rolandic epilepsy 2 / 7739
13
(OMIM) Secondary seizures (in some patients) 2 / 7739
14
(OMIM) Other seizure types (in some patients) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave ...
Clinical Description OMIM Landau and Kleffner (1957) described 6 children with acquired aphasia and convulsive disorder. Ansink et al. (1989) found reports of more than 170 children with this condition. Characteristically, Landau-Kleffner syndrome (LKS) affects previously normal children who undergo a ...
Molecular genetics OMIM In a proband, mother, and grandmother from a German family with childhood seizures and variable neurodevelopmental defects ranging from mental retardation to learning difficulties, Endele et al. (2010) identified a heterozygous mutation in the GRIN2A gene (Q218X; 138253.0001), ...