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 52
Epileptic Encephalopathy with Continuous Spike-and-Wave During Slow Sleep 52
Continuous Spike and Waves During Slow-Wave Sleep Syndrome 71
Continuous Spikes and Waves During Slow-Wave Sleep 52
Continuous Spikes and Waves During Sleep 52
Cswss Syndrome 52
Csws 52

Classifications:



External Ids:

UMLS 71 C3806403

Summaries for Continuous Spike-Wave During Slow Sleep Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 725 Definition Continuous 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. Epidemiology The 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 description CSWS 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 . Etiology Early 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 methods Diagnosis 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 diagnosis Differential 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 counseling An autosomal dominant transmission has been proposed in families with a GRIN2A mutation. Management and treatment The 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. Prognosis Although 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, eye and brain.

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 64)
# 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 autism 10.3
8 alacrima, achalasia, and mental retardation syndrome 10.3
9 pervasive developmental disorder 10.3
10 auditory agnosia 10.3
11 benign neonatal seizures 10.3
12 benign familial neonatal epilepsy 10.3
13 agnosia 10.3
14 convulsions benign familial neonatal dominant form 10.3
15 centralopathic epilepsy 10.3
16 epileptic encephalopathy, early infantile, 37 10.3
17 west syndrome 10.3
18 hydrocephalus 10.3
19 benign epilepsy with centrotemporal spikes 10.3
20 epilepsy, focal, with speech disorder and with or without mental retardation 10.2
21 speech and communication disorders 10.2
22 visual epilepsy 10.2
23 landau-kleffner syndrome 10.2
24 neonatal stroke 10.2
25 myoclonus 10.2
26 seizure disorder 10.2
27 candidiasis 10.2
28 brain injury 10.2
29 attention deficit-hyperactivity disorder 10.1
30 rett syndrome 10.1
31 epileptic encephalopathy, early infantile, 6 10.1
32 chromosome 22q11.2 duplication syndrome 10.1
33 lennox-gastaut syndrome 10.1
34 aphasia 10.1
35 quadriplegia 10.1
36 periventricular leukomalacia 10.1
37 epilepsy 10.1
38 learning disability 10.1
39 grin2a-related speech disorders and epilepsy 10.1
40 epilepsy with myoclonic-atonic seizures 10.1
41 hypotonia 10.1
42 specific language disorder 10.1
43 benign idiopathic neonatal seizures 10.1
44 human immunodeficiency virus type 1 10.0
45 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
46 visual agnosia 10.0
47 persistent generalized lymphadenopathy 10.0
48 cryptococcal meningitis 10.0
49 acute cervicitis 10.0
50 anogenital venereal wart 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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved 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 Tranquilizing Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Psychotropic Drugs Phase 2, Phase 3
9 GABA Agents Phase 2, Phase 3
10 Central Nervous System Depressants Phase 2, Phase 3
11 Anti-Anxiety Agents Phase 2, Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Antiemetics Phase 2, Phase 3
14 Adjuvants, Anesthesia Phase 2, Phase 3
15 Anesthetics Phase 2, Phase 3
16 Natriuretic Agents Phase 2, Phase 3
17 Neuromuscular Agents Phase 2, Phase 3
18 GABA Modulators Phase 2, Phase 3
19 Anesthetics, General Phase 2, Phase 3
20 Anesthetics, Intravenous Phase 2, Phase 3
21 Autonomic Agents Phase 2, Phase 3
22 diuretics Phase 2, Phase 3
23 Hypnotics and Sedatives Phase 2, Phase 3
24 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
25 Pregnanolone Phase 2 128-20-1
26
Clobazam Approved, Illicit 22316-47-8 2789
27 GABA Agonists
28 GABA-A Receptor 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) Terminated 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 Active, not 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:

40
Testes, Eye, Brain, 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]. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....