Genetic Epilepsy Syndromes

Continuum (Minneap Minn). 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077.


Purpose of review: This article reviews the clinical features, typical EEG findings, treatment, prognosis, and underlying molecular etiologies of the more common genetic epilepsy syndromes. Genetic generalized epilepsy, self-limited focal epilepsy of childhood, self-limited neonatal and infantile epilepsy, select developmental and epileptic encephalopathies, progressive myoclonus epilepsies, sleep-related hypermotor epilepsy, photosensitive occipital lobe epilepsy, and focal epilepsy with auditory features are discussed. Also reviewed are two familial epilepsy syndromes: genetic epilepsy with febrile seizures plus and familial focal epilepsy with variable foci.

Recent findings: Recent years have seen considerable advances in our understanding of the genetic factors underlying genetic epilepsy syndromes. New therapies are emerging for some of these conditions; in some cases, these precision medicine approaches may dramatically improve the prognosis.

Summary: Many recognizable genetic epilepsy syndromes exist, the identification of which is a crucial skill for neurologists, particularly those who work with children. Proper diagnosis of the electroclinical syndrome allows for appropriate treatment choices and counseling regarding prognosis and possible comorbidities.

Publication types

  • Review

MeSH terms

  • Child
  • Electroencephalography
  • Epilepsies, Partial*
  • Epilepsy* / diagnosis
  • Epilepsy* / genetics
  • Epileptic Syndromes* / diagnosis
  • Epileptic Syndromes* / genetics
  • Epileptic Syndromes* / therapy
  • Humans
  • Infant, Newborn
  • Prognosis