idiopathic generalized epilepsy

Etiology

• genetic
  • type 6 is polygenic & multifactorial

Epidemiology

• 1/3 of all epilepsy syndroms

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

Diagnostic procedures

• electroencephalogram may show generalised spike wave abnormality

Radiology

• MRI neuroimaging generally normal

More general terms

• epilepsy

More specific terms

• epilepsy with grand mal seizures on awakening
• juvenile absence epilepsy

Database

• OMIM: https://mirror.omim.org/entry/611942