KEGG   DISEASE: Childhood absence epilepsyHelp
Entry
H02215                      Disease                                

Name
Childhood absence epilepsy
  Supergrp
Idiopathic generalized epilepsies [DS:H00808]
Description
Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences, which are brief episodes of loss of consciousness. It has been reported that mutations in several genes encoding subunits of the GABAA receptor are associated with this disease.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H02215  Childhood absence epilepsy
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
    H02215  Childhood absence epilepsy
BRITE hierarchy
Pathway
hsa04727 GABAergic synapse   
Gene
(ECA2) GABRG2 [HSA:2566] [KO:K05186]
(ECA4) GABRA1 [HSA:2554] [KO:K05175]
(ECA5) GABRB3 [HSA:2562] [KO:K05181]
(ECA6) CACNA1H [HSA:8912] [KO:K04855]
Other DBs
ICD-11: 8A61.21
ICD-10: G40.3
MeSH: D004832
OMIM: 600131 607681 611136 612269 611942
Reference
  Authors
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF
  Title
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
  Journal
Nat Genet 28:49-52 (2001)
DOI:10.1038/88259
Reference
  Authors
Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV
  Title
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
  Journal
Am J Hum Genet 82:1249-61 (2008)
DOI:10.1016/j.ajhg.2008.04.020
Reference
  Authors
Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X
  Title
Association between genetic variation of CACNA1H and childhood absence epilepsy.
  Journal
Ann Neurol 54:239-43 (2003)
DOI:10.1002/ana.10607
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