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Continuous spike and waves during slow sleep

MedGen UID:
812733
Concept ID:
C3806403
Finding
Synonyms: Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWS; CSWSS syndrome; Electrical status epilepticus during slow-wave sleep; Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0031491
Orphanet: ORPHA725

Definition

Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Continuous spike and waves during slow sleep

Conditions with this feature

Landau-Kleffner syndrome
MedGen UID:
79465
Concept ID:
C0282512
Disease or Syndrome
GRIN2A-related speech disorders and epilepsy are characterized by speech disorders in all affected individuals and a range of epilepsy syndromes present in about 90%. Severe speech disorders observed can include dysarthria and speech dyspraxia, and both receptive and expressive language delay/regression; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) showing continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Seizure types include seizures associated with aura of perioral paresthesia, focal or focal motor seizures (often evolving to generalized tonic-clonic), and atypical absence seizures. Epilepsy syndromes can include: Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), childhood epilepsy with centrotemporal spikes (CECTS), atypical childhood epilepsy with centrotemporal spikes (ACECTS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), and infantile-onset epileptic encephalopathy.
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Intellectual disability, X-linked, syndromic, Houge type
MedGen UID:
1624740
Concept ID:
C4538788
Mental or Behavioral Dysfunction
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
MedGen UID:
1794148
Concept ID:
C5561938
Disease or Syndrome
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).
Developmental and epileptic encephalopathy 103
MedGen UID:
1809962
Concept ID:
C5677002
Disease or Syndrome
Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Developmental and epileptic encephalopathy 110
MedGen UID:
1824038
Concept ID:
C5774265
Disease or Syndrome
Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
MedGen UID:
1840880
Concept ID:
C5830244
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), is characterized by these features and global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition. Affected individuals may also have behavioral abnormalities. About half of patients develop various types of seizures that are usually well-controlled with medication. Rare patients are noted to have heat intolerance or insensitivity to pain (Lines et al., 2022).

Professional guidelines

PubMed

Yasuhara A, Yoshida H, Hatanaka T, Sugimoto T, Kobayashi Y, Dyken E
Epilepsia 1991 Jan-Feb;32(1):59-62. doi: 10.1111/j.1528-1157.1991.tb05612.x. PMID: 1985831

Recent clinical studies

Therapy

Caraballo RH, Galicchio S
Epileptic Disord 2022 Feb 1;24(1):208-210. doi: 10.1684/epd.2021.1359. PMID: 34750092
Vega C, Sánchez Fernández I, Peters J, Thome-Souza MS, Jackson M, Takeoka M, Wilkening GN, Pearl PL, Chapman K, Loddenkemper T
Dev Med Child Neurol 2018 Mar;60(3):283-289. Epub 2017 Nov 23 doi: 10.1111/dmcn.13607. PMID: 29168169
Striano P, Capovilla G
Curr Neurol Neurosci Rep 2013 Jul;13(7):360. doi: 10.1007/s11910-013-0360-5. PMID: 23666433
Akman CI
Semin Pediatr Neurol 2010 Sep;17(3):155-62. doi: 10.1016/j.spen.2010.06.009. PMID: 20727484
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318

Prognosis

Caraballo R, Pavlidis E, Nikanorova M, Loddenkemper T
Epileptic Disord 2019 Jun 1;21(S1):15-21. doi: 10.1684/epd.2019.1052. PMID: 31262717
Vega C, Sánchez Fernández I, Peters J, Thome-Souza MS, Jackson M, Takeoka M, Wilkening GN, Pearl PL, Chapman K, Loddenkemper T
Dev Med Child Neurol 2018 Mar;60(3):283-289. Epub 2017 Nov 23 doi: 10.1111/dmcn.13607. PMID: 29168169
Striano P, Capovilla G
Curr Neurol Neurosci Rep 2013 Jul;13(7):360. doi: 10.1007/s11910-013-0360-5. PMID: 23666433
Loddenkemper T, Fernández IS, Peters JM
J Clin Neurophysiol 2011 Apr;28(2):154-64. doi: 10.1097/WNP.0b013e31821213eb. PMID: 21399511
Akman CI
Semin Pediatr Neurol 2010 Sep;17(3):155-62. doi: 10.1016/j.spen.2010.06.009. PMID: 20727484

Clinical prediction guides

Sonnek B, Döring JH, Mütze U, Schubert-Bast S, Bast T, Balke D, Reuner G, Schuler E, Klabunde-Cherwon A, Hoffmann GF, Kölker S, Syrbe S
Eur J Paediatr Neurol 2021 Jan;30:121-127. Epub 2020 Oct 24 doi: 10.1016/j.ejpn.2020.10.010. PMID: 33132036
Caraballo R, Pavlidis E, Nikanorova M, Loddenkemper T
Epileptic Disord 2019 Jun 1;21(S1):15-21. doi: 10.1684/epd.2019.1052. PMID: 31262717
Vega C, Sánchez Fernández I, Peters J, Thome-Souza MS, Jackson M, Takeoka M, Wilkening GN, Pearl PL, Chapman K, Loddenkemper T
Dev Med Child Neurol 2018 Mar;60(3):283-289. Epub 2017 Nov 23 doi: 10.1111/dmcn.13607. PMID: 29168169
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811

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