MCID: CNT063
MIFTS: 19

Continuous Spike-Wave During Slow Sleep Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Continuous Spike-Wave During Slow Sleep Syndrome

MalaCards integrated aliases for Continuous Spike-Wave During Slow Sleep Syndrome:

Name: Continuous Spike-Wave During Slow Sleep Syndrome 54
Epileptic Encephalopathy with Continuous Spike-and-Wave During Slow Sleep 54
Continuous Spike and Waves During Slow-Wave Sleep Syndrome 74
Continuous Spikes and Waves During Slow-Wave Sleep 54
Continuous Spikes and Waves During Sleep 54
Cswss Syndrome 54
Csws 54

Classifications:



External Ids:

UMLS 74 C3806403

Summaries for Continuous Spike-Wave During Slow Sleep Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 725Disease definitionContinuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.EpidemiologyThe prevalence is unknown. CSWS is a rare condition that affects 0.5-1.5% of children with epilepsy (in some series) and has a 3:2 male to female ratio.Clinical descriptionCSWS is an age-related epileptic encephalopathy in which the clinical features evolve over time. After a normal or only moderately abnormal baseline development, seizures usually present at around 2-4 years of age. They are often unilateral, tonic-clonic or clonic and typically occur out of sleep. Seizures become more frequent, severe, and treatment-resistant with a marked deterioration in seizures, EEG, and developmental aspects (i.e. language, social interactions, global intelligence, motor skills and behavior) at approximately 5-6 years of age. During this acute stage, the seizures (absence seizures, clonic, tonic-clonic and others) and EEG abnormalities are difficult to control. Spontaneous improvement in seizures and EEG features occurs before puberty, but most patients remain with severe developmental delay.EtiologyEarly developmental lesions such as vascular insults, especially affecting the thalamus, or malformations of cortical development have been found in approximately half of all cases. Genetic factors, especially mutations in the GRIN2A gene (16p13.2) have been recently linked to CSWS.Diagnostic methodsDiagnosis is based on characteristic clinical evolution (with seizures and neurocognitive regression in at least 2 domains) and EEG findings. The main EEG feature of CSWS is ESES. ESES is characterized by marked potentiation of epileptiform discharges during the transition from wakefulness to sleep leading to (near-) continuous, bilateral or occasionally lateralized slow spikes and waves that occur during a significant proportion of non-rapid eye movement (REM) sleep. Magnetic resonance imaging (MRI) is performed in order to identify any brain lesions. As of now it is not routine clinical practice to perform genetic tests for GRIN2A in CSWS, but testing is available in certain specialized centers.Differential diagnosisDifferential diagnosis includes any epileptic syndrome with sleep potentiation of epileptiform activity such as Landau-Kleffner syndrome, Panayiotopoulos and Gastaut types of benign childhood occipital epilepsy and rolandic epilepsy (see these terms).Genetic counselingAn autosomal dominant transmission has been proposed in families with a GRIN2A mutation.Management and treatmentThe main aim of treatment is to control seizures. It is unknown whether improvement of EEG abnormalities improves the long-term developmental outcome. High-dose nocturnal benzodiazepines like diazepam or clobazam are successful in reducing epileptiform activity acutely and subacutely. The antiepileptic drugs most often used include valproate, levetiracetam, lamotrigine, and ethosuximide. Corticosteroids are useful but associated with long-term side effects. Epilepsy surgery is an efficacious therapy in selected cases, even when epileptiform discharges are bilateral.PrognosisAlthough seizures and EEG abnormalities tend to normalize by adolescence, the developmental prognosis is generally poor as neurocognitive regression is permanent in most cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Continuous Spike-Wave During Slow Sleep Syndrome, also known as epileptic encephalopathy with continuous spike-and-wave during slow sleep, is related to epilepsy, focal, with speech disorder and with or without mental retardation and epilepsy-aphasia spectrum. The drugs Clobazam and Tranquilizing Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye.

Related Diseases for Continuous Spike-Wave During Slow Sleep Syndrome

Graphical network of the top 20 diseases related to Continuous Spike-Wave During Slow Sleep Syndrome:



Diseases related to Continuous Spike-Wave During Slow Sleep Syndrome

Symptoms & Phenotypes for Continuous Spike-Wave During Slow Sleep Syndrome

Drugs & Therapeutics for Continuous Spike-Wave During Slow Sleep Syndrome

Drugs for Continuous Spike-Wave During Slow Sleep Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobazam Approved, Illicit 22316-47-8 2789
2 Tranquilizing Agents
3 GABA-A Receptor Agonists
4 Anti-Anxiety Agents
5 Anticonvulsants
6 Psychotropic Drugs
7 Neurotransmitter Agents
8 Central Nervous System Depressants
9 GABA Agonists
10 GABA Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Basis of Idiopathic Focal Epilepsies With Cognitif Deficits Unknown status NCT00851331 Not Applicable
2 Electrical Status Epilepticus in Sleep: Response of Neuropsychological Deficits and Epileptiform Activity to Clobazam Treatment Completed NCT02127918 ESES treated with clobazam
3 Diffusion Tensor Imaging in Epilepsy With Continuous Spikes and Waves During Sleep Recruiting NCT03035513
4 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Recruiting NCT03865771 Not Applicable
5 Management Strategies For Electrical Status Epilepticus During Sleep Not yet recruiting NCT03251820 corticosteroid

Search NIH Clinical Center for Continuous Spike-Wave During Slow Sleep Syndrome

Genetic Tests for Continuous Spike-Wave During Slow Sleep Syndrome

Anatomical Context for Continuous Spike-Wave During Slow Sleep Syndrome

MalaCards organs/tissues related to Continuous Spike-Wave During Slow Sleep Syndrome:

42
Testes, Brain, Eye, Thalamus

Publications for Continuous Spike-Wave During Slow Sleep Syndrome

Articles related to Continuous Spike-Wave During Slow Sleep Syndrome:

# Title Authors Year
1
A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan. ( 28038823 )
2017

Variations for Continuous Spike-Wave During Slow Sleep Syndrome

Expression for Continuous Spike-Wave During Slow Sleep Syndrome

Search GEO for disease gene expression data for Continuous Spike-Wave During Slow Sleep Syndrome.

Pathways for Continuous Spike-Wave During Slow Sleep Syndrome

GO Terms for Continuous Spike-Wave During Slow Sleep Syndrome

Sources for Continuous Spike-Wave During Slow Sleep Syndrome

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
Content
Loading form....