Ring 20 chromosome
Evidence-based neurology checklist on ring 20 chromosome: Genetics: intra-chromosomal fusions Group 1: these are mosaic for the r(20) with no deletion or duplication Group 2: these are non-mosaic ring chromosomes with a deletion Most cases are sporadic Refractory epilepsy syndromes Other…
Genetics: intra-chromosomal fusions
- Group 1: these are mosaic for the r(20) with no deletion or duplication
- Group 2: these are non-mosaic ring chromosomes with a deletion
- Most cases are sporadic
Refractory epilepsy syndromes
Other neurological features
Electroencephalogram (EEG): features
Other investigations
References
- Conlin LK, Kramer W, Hutchinson AL, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet 2011; 48:1-9.
- Radhakrishnan A, Menon RN, Hariharan S, Radhakrishnan K. The evolving electroclinical syndrome of "epilepsy with ring chromosome 20". Seizure 2012; 21:92-97.
- Inoue Y, Fujiwara T, Matsuda K, et al. Ring chromosome 20 and nonconvulsive status epilepticus: a new epileptic syndrome. Brain 1997; 120:939–953.
- Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology 2001; 57:1108-1111.
- Dimova P, Boneva I, Todorova A, Minotti L, Kahane P. Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration. Epileptic Disord 2012; 14:181-186.
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