Epilepsy genetics--past, present, and future

Curr Opin Genet Dev. 2011 Jun;21(3):325-32. doi: 10.1016/j.gde.2011.01.005. Epub 2011 Jan 27.


Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Cadherins / genetics*
  • Carrier Proteins / genetics*
  • Chromosome Aberrations
  • Epilepsy / genetics*
  • GTPase-Activating Proteins
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study
  • Genomic Structural Variation / genetics*
  • Humans
  • Membrane Proteins
  • Munc18 Proteins / genetics*
  • Nerve Tissue Proteins / genetics
  • Protocadherins


  • ASPM protein, human
  • Cadherins
  • Carrier Proteins
  • GTPase-Activating Proteins
  • Membrane Proteins
  • Munc18 Proteins
  • Nerve Tissue Proteins
  • PCDH19 protein, human
  • Protocadherins
  • STXBP1 protein, human
  • TBC1D24 protein, human