KEGG   DISEASE: Epilepsy with myoclonic absence
Entry
H01822                      Disease                                
Name
Epilepsy with myoclonic absence
Description
Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis is based on clinical observation and ictal polygraphic and video-EEG recording. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz. The age of onset of seizures is usually between 3 and 12 years, with a peak at around 5 to 7 years of age. The mental development of children with EMA is usually slow, and the long-term prognosis is poor.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H01822  Epilepsy with myoclonic absence
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
    H01822  Epilepsy with myoclonic absence
Comment
See also H00808 Idiopathic generalized epilepsies.
Other DBs
ICD-11: 8A61.23
ICD-10: G40.3
MeSH: D004831
Reference
  Authors
Bureau M, Tassinari CA
  Title
Epilepsy with myoclonic absences.
  Journal
Brain Dev 27:178-84 (2005)
DOI:10.1016/j.braindev.2004.01.008
Reference
PMID:27770719 (drug)
  Authors
Zanzmera P, Menon RN, Karkare K, Soni H, Jagtap S, Radhakrishnan A
  Title
Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype.
  Journal
Epilepsy Behav 64:242-247 (2016)
DOI:10.1016/j.yebeh.2016.08.023
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