KEGG   DISEASE: Childhood absence epilepsyHelp
H02215                      Disease                                

Childhood absence epilepsy
Idiopathic generalized epilepsies [DS:H00808]
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
   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
hsa04727 GABAergic synapse   
(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
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
Nat Genet 28:49-52 (2001)
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
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
Am J Hum Genet 82:1249-61 (2008)
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
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Ann Neurol 54:239-43 (2003)
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