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Ring chromosome 20 syndrome

MedGen UID:
489853
Concept ID:
C0265482
Congenital Abnormality; Disease or Syndrome
Synonyms: Chromosome 20 ring; Ring 20
SNOMED CT: Ring chromosome 20 syndrome (23686004)
 

Definition

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.Most people with ring chromosome 20 syndrome also have some degree of intellectual disability and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Additional features of this condition can include slow growth and short stature, a small head (microcephaly), and subtle differences in facial features. Major birth defects are rarely seen with ring chromosome 20 syndrome.
[from GHR]

Recent clinical studies

Etiology

Hirano Y, Oguni H, Nagata S
Brain Dev 2016 Sep;38(8):746-9. Epub 2016 Mar 12 doi: 10.1016/j.braindev.2016.02.013. PMID: 26980640
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB
J Med Genet 2011 Jan;48(1):1-9. Epub 2010 Oct 23 doi: 10.1136/jmg.2010.080382. PMID: 20972251
Macleod S, Mallik A, Tolmie JL, Stephenson JB, O'Regan ME, Zuberi SM
Brain Dev 2005 Mar;27(2):118-24. doi: 10.1016/j.braindev.2003.10.006. PMID: 15668051

Diagnosis

Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339
Dimova P, Boneva I, Todorova A, Minotti L, Kahane P
Epileptic Disord 2012 Jun;14(2):181-6. doi: 10.1684/epd.2012.0508. PMID: 22591830
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L
Epilepsy Behav 2012 Apr;23(4):409-14. Epub 2012 Mar 15 doi: 10.1016/j.yebeh.2012.02.008. PMID: 22424860
Kamoun FF, Ellouz EJ, Hsairi IG, Triki CC
Neurosciences (Riyadh) 2012 Jan;17(1):74-7. PMID: 22246017
Cappanera S, Passamonti C, Zamponi N
Pediatr Neurol 2011 Nov;45(5):341-3. doi: 10.1016/j.pediatrneurol.2011.08.006. PMID: 22000318

Therapy

Hirano Y, Oguni H, Nagata S
Brain Dev 2016 Sep;38(8):746-9. Epub 2016 Mar 12 doi: 10.1016/j.braindev.2016.02.013. PMID: 26980640
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Dimova P, Boneva I, Todorova A, Minotti L, Kahane P
Epileptic Disord 2012 Jun;14(2):181-6. doi: 10.1684/epd.2012.0508. PMID: 22591830
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L
Epilepsy Behav 2012 Apr;23(4):409-14. Epub 2012 Mar 15 doi: 10.1016/j.yebeh.2012.02.008. PMID: 22424860
Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F
Epileptic Disord 2008 Dec;10(4):254-9. doi: 10.1684/epd.2008.0212. PMID: 19017565

Prognosis

Hirano Y, Oguni H, Nagata S
Brain Dev 2016 Sep;38(8):746-9. Epub 2016 Mar 12 doi: 10.1016/j.braindev.2016.02.013. PMID: 26980640
Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F
Epileptic Disord 2008 Dec;10(4):254-9. doi: 10.1684/epd.2008.0212. PMID: 19017565
Nishiwaki T, Hirano M, Kumazawa M, Ueno S
Acta Neurol Scand 2005 Mar;111(3):205-8. doi: 10.1111/j.1600-0404.2005.00298.x. PMID: 15691292

Clinical prediction guides

Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP
Funct Neurol 2013 Jan-Mar;28(1):47-53. PMID: 23731915Free PMC Article
Ricard-Mousnier B, N'Guyen S, Dubas F, Pouplard F, Guichet A
Epileptic Disord 2007 Sep;9(3):327-31. Epub 2007 Sep 20 doi: 10.1684/epd.2007.0121. PMID: 17884758
Nishiwaki T, Hirano M, Kumazawa M, Ueno S
Acta Neurol Scand 2005 Mar;111(3):205-8. doi: 10.1111/j.1600-0404.2005.00298.x. PMID: 15691292

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