| H00577 | |
| H番号 | H00577 |
| 名称 | 症候性全般てんかん |
| 概要 | Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures, Early myoclonic encephalopathy, Early infantile epileptic encephalopathy, and other symptomatic generalized epilepsies. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (EPILX) SYN1 [HSA:6853] [KO:K19941] (RMFSL) BRAT1 [HSA:221927] [KO:K23112] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61 ICD-10: G40.4 MeSH: D004829 OMIM: 300491 614498 |
| 文献 | PMID:2502382 タイトル Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 雑誌 Epilepsia 30:389-99 (1989) DOI:10.1111/j.1528-1157.1989.tb05316.x PMID:20196795 著者 Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE タイトル Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 雑誌 Epilepsia 51:676-85 (2010) DOI:10.1111/j.1528-1167.2010.02522.x PMID:14985377 (EPILX) 著者 Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA タイトル Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 雑誌 J Med Genet 41:183-6 (2004) DOI:10.1136/jmg.2003.013680 PMID:25500575 (RMFSL) 著者 Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L タイトル Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 雑誌 Eur J Paediatr Neurol 19:240-2 (2015) DOI:10.1016/j.ejpn.2014.11.004 |