Epilepsy genes: The link between molecular dysfunction and pathophysiology

Carl E. Stafstrom, Bruce L. Tempel

Research output: Contribution to journalArticlepeer-review


Our understanding of the genetic basis of epilepsy is progressing at a rapid pace. Gene mutations causing several of the inherited epilepsies have been mapped, and several more are likely to be added in coming years. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability. Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with febrile seizures 'plus'), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease). Gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)281-292
Number of pages12
JournalMental Retardation and Developmental Disabilities Research Reviews
Issue number4
StatePublished - 2000
Externally publishedYes


  • Acetylcholine receptor
  • Epilepsy
  • Genetics
  • Pathophysiology
  • Potassium channel
  • Sodium channel

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology
  • Genetics(clinical)


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