| H01831 | |
| H番号 | H01831 |
| 名称 | 環状２０番染色体症候群 |
| 概要 | 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. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD44.0 ICD-10: Q93.2 MeSH: C535369 |
| 文献 | PMID:23731915 著者 Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP タイトル Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern. 雑誌 Funct Neurol 28:47-53 (2013) DOI:10.11138/FNeur/2013.28.1.047 PMID:24483620 著者 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 タイトル Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study. 雑誌 Epilepsia 55:403-13 (2014) DOI:10.1111/epi.12539 |