KEGG   DISEASE: Juvenile absence epilepsy
Entry
H02216                      Disease                                
Name
Juvenile absence epilepsy
  Supergrp
Idiopathic generalized epilepsies [DS:H00808]
Description
Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The seizure onset is typically between 9 and 13 years of age.
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
    H02216  Juvenile absence epilepsy
Gene
(EJA1) EFHC1 [HSA:114327] [KO:K23029]
(EJA2) CLCN2 [HSA:1181] [KO:K05011]
Other DBs
ICD-11: 8A61.31
ICD-10: G40.3
MeSH: D004832
OMIM: 607631 607628
Reference
  Authors
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A
  Title
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
  Journal
Neurology 67:2029-31 (2006)
DOI:10.1212/01.wnl.0000250254.67042.1b
Reference
  Authors
Danhofer P, Brazdil M, Oslejskova H, Kuba R
  Title
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center.
  Journal
Seizure 23:443-7 (2014)
DOI:10.1016/j.seizure.2014.03.002
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