R20
MCID: RNG016
MIFTS: 23

Ring Chromosome 20 (R20) malady

Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Ring Chromosome 20

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Sources:
21Genetics Home Reference, 65Wikipedia, 33MalaCards
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Genetics Home Reference:21 Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.

MalaCards: Ring Chromosome 20, also known as ring chromosome 20 syndrome, is related to status epilepticus and epilepsy syndrome. An important gene associated with Ring Chromosome 20 is CTSA (cathepsin A).

Wikipedia:65 Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality... more...

Aliases & Classifications for Ring Chromosome 20

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43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
ring chromosome 20:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ring chromosome 20 43 21 49
ring chromosome 20 syndrome 43 21 62
chromosome 20 ring 43 62
ring chromosome 20 epilepsy syndrome 21
ring 20 syndrome 21
r(20) syndrome 21
ring 20 43
r20 43


External Ids:

MESH via Orphanet36 C535369
ICD10 via Orphanet26 Q93.2
SNOMED-CT via Orphanet59 23686004
UMLS via Orphanet63 C0265482, C2930886

Related Diseases for Ring Chromosome 20

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17GeneCards, 18GeneDecks
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Symptoms for Ring Chromosome 20

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Drugs & Therapeutics for Ring Chromosome 20

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 20

Search NIH Clinical Center for Ring Chromosome 20

Genetic Tests for Ring Chromosome 20

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Anatomical Context for Ring Chromosome 20

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Animal Models for Ring Chromosome 20 or affiliated genes

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Publications for Ring Chromosome 20

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52PubMed
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Articles related to Ring Chromosome 20:

(show all 40)
idTitleAuthorsYear
1
Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20. (23968845)
2014
2
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine. (23916860)
2013
3
Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. (23731915)
2013
4
Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. (23272278)
2012
5
Ring chromosome 20. (22406087)
2012
6
Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration. (21858587)
2012
7
Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. (22424860)
2012
8
Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. (22591830)
2012
9
Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy. (22738216)
2012
10
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome. (22246017)
2012
11
The evolving electroclinical syndrome of &quot;epilepsy with ring chromosome 20&quot;. (22000954)
2012
12
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. (20972251)
2011
13
New association between ring chromosome 20 syndrome and hypomelanosis of Ito. (22000318)
2011
14
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. (20585311)
2010
15
Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study. (20927024)
2010
16
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. (19128450)
2009
17
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. (19670346)
2009
18
Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. (19583784)
2009
19
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. (19232114)
2009
20
Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. (19017565)
2008
21
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. (17851150)
2007
22
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome. (17884758)
2007
23
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. (16806995)
2006
24
Early pattern of epilepsy in the ring chromosome 20 syndrome. (16529619)
2006
25
Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'. (16097967)
2005
26
Ring chromosome 20 syndrome with intractable epilepsy. (15892377)
2005
27
Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. (16128150)
2005
28
Mosaicism and phenotype in ring chromosome 20 syndrome. (15691292)
2005
29
PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. (15249613)
2004
30
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11914429)
2002
31
Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. (12546436)
2002
32
Epilepsy and ring chromosome 20: case report. (12244405)
2002
33
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11571346)
2001
34
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. (10756336)
2000
35
Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. (10937160)
1999
36
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. (9217679)
1997
37
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. (8721573)
1996
38
Ring chromosome 20 mosaicism in a girl with complex partial seizures. (8132117)
1994
39
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS. (8403451)
1993
40
Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20. (1605251)
1992

Variations for Ring Chromosome 20

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Expression for genes affiliated with Ring Chromosome 20

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ring Chromosome 20

Search GEO for disease gene expression data for Ring Chromosome 20.

Pathways for genes affiliated with Ring Chromosome 20

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Compounds for genes affiliated with Ring Chromosome 20

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GO Terms for genes affiliated with Ring Chromosome 20

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Products for genes affiliated with Ring Chromosome 20

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Chromosome 20

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet