| H00577 | |
| H number | H00577 |
| Name | Symptomatic generalized epilepsies |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (EPILX) SYN1 [HSA:6853] [KO:K19941] (RMFSL) BRAT1 [HSA:221927] [KO:K23112] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61 ICD-10: G40.4 MeSH: D004829 OMIM: 300491 614498 |
| Reference | PMID:2502382 TITLE Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. JOURNAL Epilepsia 30:389-99 (1989) DOI:10.1111/j.1528-1157.1989.tb05316.x PMID:20196795 AUTHORS 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 TITLE Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. JOURNAL Epilepsia 51:676-85 (2010) DOI:10.1111/j.1528-1167.2010.02522.x PMID:14985377 (EPILX) AUTHORS Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA TITLE Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. JOURNAL J Med Genet 41:183-6 (2004) DOI:10.1136/jmg.2003.013680 PMID:25500575 (RMFSL) AUTHORS Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L TITLE Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. JOURNAL Eur J Paediatr Neurol 19:240-2 (2015) DOI:10.1016/j.ejpn.2014.11.004 |