KEGG   DISEASE: Symptomatic generalized epilepsiesHelp
Entry
H00577                      Disease                                

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 (H01460), Lennox-Gastaut syndrome (H01813), Dravet syndrome (H01818), Epilepsy with myoclonic-astatic seizures (H01823), Early myoclonic encephalopathy (H01819), Early infantile epileptic encephalopathy (H00606), and other symptomatic generalized epilepsies.
Category
Congenital disorder; Epilepsy
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00577  Symptomatic generalized epilepsies
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G40  Epilepsy and recurrent seizures
    H00577  Symptomatic generalized epilepsies
BRITE hierarchy
Gene
(EHLMRS) SPATA5 [HSA:166378] [KO:K14575]
(RMFSL) BRAT1 [HSA:221927]
(HOMGSMR) CNNM2 [HSA:54805] [KO:K16302]
Comment
Other symptomatic generalized epilepsies include Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS), Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL),  and Hypomagnesemia, seizures, and mental retardation (HOMGSMR).
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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
  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:26299366 (gene)
  Authors
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK
  Title
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
  Journal
Am J Hum Genet 97:457-64 (2015)
DOI:10.1016/j.ajhg.2015.07.014
Reference
PMID:25500575 (gene)
  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:24699222 (gene)
  Authors
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG
  Title
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
  Journal
PLoS Genet 10:e1004267 (2014)
DOI:10.1371/journal.pgen.1004267

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