KEGG   DISEASE: Symptomatic generalized epilepsiesHelp
H00577                      Disease                                

Symptomatic generalized epilepsies
Dravet syndrome [DS:H01818]
Epilepsy with myoclonic-astatic seizures [DS:H01823]
Early myoclonic encephalopathy [DS:H01819]
Early infantile epileptic encephalopathy [DS:H00606]
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
   H00577  Symptomatic generalized epilepsies
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
BRITE hierarchy
(EHLMRS) SPATA5 [HSA:166378] [KO:K14575]
(XELBD) SYN1 [HSA:6853] [KO:K19941]
(RMFSL) BRAT1 [HSA:221927] [KO:K23112]
(HOMGSMR) CNNM2 [HSA:54805] [KO:K16302]
Other symptomatic generalized epilepsies include Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS), Epilepsy X-linked, with variable learning disabilities and behavior disorders (XELBD), 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-11: 8A61
ICD-10: G40.4
MeSH: D004829
OMIM: 616577 300491 614498 616418
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against  Epilepsy.
Epilepsia 30:389-99 (1989)
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
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Epilepsia 51:676-85 (2010)
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
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet 97:457-64 (2015)
Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.
Eur J Paediatr Neurol 19:240-2 (2015)
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
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
PLoS Genet 10:e1004267 (2014)
Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
J Med Genet 41:183-6 (2004)

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