CSWS
MCID: CNT063
MIFTS: 18

Continuous Spike-Wave During Slow Sleep Syndrome (CSWS)

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 53
Epileptic Encephalopathy with Continuous Spike-and-Wave During Slow Sleep 53
Continuous Spike and Waves During Slow-Wave Sleep Syndrome 72
Continuous Spikes and Waves During Slow-Wave Sleep 53
Continuous Spikes and Waves During Sleep 53
Cswss Syndrome 53
Csws 53

Classifications:



External Ids:

UMLS 72 C3806403

Summaries for Continuous Spike-Wave During Slow Sleep Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 725DefinitionContinuous 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-aphasia spectrum and inappropriate adh syndrome. The drugs Levetiracetam and Anticonvulsants 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

Diseases related to Continuous Spike-Wave During Slow Sleep Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 epilepsy-aphasia spectrum 11.5
2 inappropriate adh syndrome 11.5
3 chromosome xp11.23-p11.22 duplication syndrome 11.2
4 encephalopathy 10.7
5 status epilepticus 10.5
6 focal epilepsy 10.4
7 syndrome of inappropriate antidiuretic hormone 10.3
8 autism 10.3
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
10 alacrima, achalasia, and mental retardation syndrome 10.3
11 pervasive developmental disorder 10.3
12 auditory agnosia 10.3
13 benign neonatal seizures 10.3
14 benign familial neonatal epilepsy 10.3
15 agnosia 10.3
16 convulsions benign familial neonatal dominant form 10.3
17 centralopathic epilepsy 10.3
18 epileptic encephalopathy, early infantile, 37 10.3
19 west syndrome 10.3
20 hydrocephalus 10.3
21 benign epilepsy with centrotemporal spikes 10.3
22 congenital hydrocephalus 10.3
23 epilepsy, focal, with speech disorder and with or without mental retardation 10.2
24 speech and communication disorders 10.2
25 visual epilepsy 10.2
26 landau-kleffner syndrome 10.2
27 neonatal stroke 10.2
28 myoclonus 10.2
29 seizure disorder 10.2
30 candidiasis 10.1
31 brain injury 10.1
32 attention deficit-hyperactivity disorder 10.1
33 rett syndrome 10.1
34 epileptic encephalopathy, early infantile, 6 10.1
35 chromosome 22q11.2 duplication syndrome 10.1
36 lennox-gastaut syndrome 10.1
37 aphasia 10.1
38 quadriplegia 10.1
39 periventricular leukomalacia 10.1
40 epilepsy 10.1
41 learning disability 10.1
42 grin2a-related speech disorders and epilepsy 10.1
43 cdkl5 deficiency disorder 10.1
44 epilepsy with myoclonic-atonic seizures 10.1
45 hypotonia 10.1
46 specific language disorder 10.1
47 benign idiopathic neonatal seizures 10.1
48 human immunodeficiency virus type 1 10.0
49 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
50 visual agnosia 10.0

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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
2 Anticonvulsants Phase 4
3 Nootropic Agents Phase 4
4
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
5
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 439-14-5 3016
6 Neurotransmitter Agents Phase 2, Phase 3
7 Tranquilizing Agents Phase 2, Phase 3
8 Anti-Anxiety Agents Phase 2, Phase 3
9 GABA Agents Phase 2, Phase 3
10 Central Nervous System Depressants Phase 2, Phase 3
11 Psychotropic Drugs Phase 2, Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Antiemetics Phase 2, Phase 3
14 diuretics Phase 2, Phase 3
15 Neuromuscular Agents Phase 2, Phase 3
16 Adjuvants, Anesthesia Phase 2, Phase 3
17 Natriuretic Agents Phase 2, Phase 3
18 Peripheral Nervous System Agents Phase 2, Phase 3
19 GABA Modulators Phase 2, Phase 3
20 Hypnotics and Sedatives Phase 2, Phase 3
21 Anesthetics Phase 2, Phase 3
22 Anesthetics, General Phase 2, Phase 3
23 Anesthetics, Intravenous Phase 2, Phase 3
24 Autonomic Agents Phase 2, Phase 3
25 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
26 Pregnanolone Phase 2 128-20-1
27
Clobazam Approved, Illicit 22316-47-8 2789
28 GABA-A Receptor Agonists
29 GABA Agonists

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) - a Placebo Controlled Double-blind Cross-over-study Unknown status NCT00393614 Phase 4 levetiracetam
2 Non-inferiority Prospective Randomized Trial of Acetazolamide Versus Diazepam in Patients With Continuous Spike and Wave in Sleep (CSWS)/Landau Kleffner Syndrome (LKS) Enrolling by invitation NCT02904265 Phase 2, Phase 3 Diazepam;Acetazolamide
3 A Multicenter, Open-Label Proof-of-Concept Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies Followed by 52 Week Open-Label Treatment Active, not recruiting NCT02358538 Phase 2 Ganaxolone
4 Phase I Trial of the Feasibility and Dose Tolerability of High Definition Transcranial Direct Current Stimulation in Healthy Adults and Children With Down Syndrome Recruiting NCT02481765 Phase 1
5 Genetic Basis of Idiopathic Focal Epilepsies With Cognitif Deficits Unknown status NCT00851331
6 Electrical Status Epilepticus in Sleep: Response of Neuropsychological Deficits and Epileptiform Activity to Clobazam Treatment Completed NCT02127918 ESES treated with clobazam
7 Spectrum of Serum Sodium Disturbances in Patients With Non-sellar/Suprasellar Supratentorial Tumors Completed NCT03570203
8 Diffusion Tensor Imaging of the Thalamo-cortical Network in Epilepsy With Continuous Spikes and Waves During Sleep Recruiting NCT03035513
9 Repeated Oscillatory Transcranial Magnetic Stimulation Therapy of the Epileptogenic Cortical Area in Children With Focal Continuous-Spike and Wave During Sleep Recruiting NCT04034030
10 Assessment of a Community Support Worker Intervention for PLWH in Rural Ethiopia Active, not recruiting NCT02448394
11 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:

41
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 PMID Year
1
[Epileptic syndromes which show continuous spike and wake complexes during slow wave sleep]. 38
9280631 1997

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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