KEGG   DISEASE: Symptomatic generalized epilepsies
Entry
H00577                      Disease                                
Name
Symptomatic generalized epilepsies
  Subgroup
Dravet syndrome [DS:H01818]
Epilepsy with myoclonic-astatic seizures [DS:H01823]
Early myoclonic encephalopathy [DS:H01819]
Early infantile epileptic encephalopathy [DS:H00606]
Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)
Epilepsy, X-linked, with variable learning disabilities and behavior disorders (EPILX)
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H00577  Symptomatic generalized epilepsies
Gene
(RMFSL) BRAT1 [HSA:221927] [KO:K23112]
(EPILX) SYN1 [HSA:6853] [KO:K19941]
Other DBs
ICD-11: 8A61
MeSH: D004829
OMIM: 614498 300491
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
Reference
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
Reference
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
Reference
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

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Disease (2)   
   OMIM (2)   
All databases (2)   

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