Search
idiopathic generalized epilepsy
Includes the syndromes:
- juvenile absence epilepsy
- juvenile myoclonic epilepsy
- epilepsy with only generalized tonic-clonic seizures
Etiology:
- genetic
- type 6 is polygenic & multifactorial
Epidemiology:
- 1/3 of all epilepsy syndromes
Genetics:
- associated with defects in CACNA1H (type 6)
- associated with defects in CACNB4
Clinical manifestations:
- recurring generalized seizures in the absence of detectable brain lesions &/or metabolic abnormalities
- generalized seizures arise diffusely & simultaneously from both hemispheres of the brain
- tonic-clonic seizures, absence seizures or myoclonic seizures
- cognitive deficits [3]
- impulsivity
- personality disorder
- psychiatric disorder
- may be present 5 years prior to diagnosis [3]
Special laboratory:
- electroencephalogram may show generalised spike wave abnormality [2]
Radiology:
- MRI neuroimaging generally normal [2]
Specific
epilepsy with grand mal seizures on awakening; epilepsy with only generalized tonic-clonic seizures
juvenile absence epilepsy
juvenile myoclonic epilepsy (of Janz)
General
epilepsy
Database Correlations
OMIM 611942
References
- OMIM :accession 611942
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015
- Medical Knowledge Self Assessment Program (MKSAP) 19
Board Basics. An Enhancement to MKSAP19.
American College of Physicians, Philadelphia 2022
- Gesche J, Rubboli G, Beier CP.
Prodromal phase of idiopathic generalized epilepsy: A register-based case control study.
Neurology 2024 Oct 22; 103:e209921.
PMID: 39284111
https://www.neurology.org/doi/10.1212/WNL.0000000000209921