Complex single gene disorders and epilepsy

Epilepsia. 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x.


Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

Publication types

  • Review

MeSH terms

  • Angelman Syndrome / complications
  • Angelman Syndrome / genetics
  • Cadherins / genetics
  • Classical Lissencephalies and Subcortical Band Heterotopias / complications
  • Classical Lissencephalies and Subcortical Band Heterotopias / genetics
  • Epilepsy / drug therapy
  • Epilepsy / etiology*
  • Epilepsy / genetics*
  • Genetic Diseases, Inborn / complications*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / therapy
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Lafora Disease / complications
  • Lafora Disease / genetics
  • MERRF Syndrome / complications
  • MERRF Syndrome / genetics
  • Neurofibromatoses / complications
  • Neurofibromatoses / genetics
  • Rett Syndrome / complications
  • Rett Syndrome / genetics
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / genetics
  • Unverricht-Lundborg Syndrome / complications
  • Unverricht-Lundborg Syndrome / genetics


  • Cadherins
  • PCDH19 protein, human