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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 Special laboratory: - electroencephalogram may show generalised spike wave abnormality [2] Radiology: - MRI neuroimaging generally normal [2]

Specific

epilepsy with grand mal seizures on awakening juvenile absence epilepsy

General

epilepsy

Database Correlations

OMIM 611942

References

  1. OMIM :accession 611942
  2. 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