| H01831 | |
| H number | H01831 |
| Name | Ring chromosome 20 syndrome |
| Description | Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most patients, seizures are drug resistant and characterized by prolonged nonconvulsive status epilepticus (NCSE). Psychomotor development may be normal or mildly delayed until epilepsy onset. The distinctive electroencephalograms (EEG) have been described in the syndrome. They suggest the involvement of the frontal lobes networks in the generation of ictal and interictal activities. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD44.0 ICD-10: Q93.2 MeSH: C535369 |
| Reference | PMID:23731915 AUTHORS Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP TITLE Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. JOURNAL Funct Neurol 28:47-53 (2013) DOI:10.11138/FNeur/2013.28.1.047 PMID:24483620 AUTHORS 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 TITLE Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. JOURNAL Epilepsia 55:403-13 (2014) DOI:10.1111/epi.12539 |