The sacred disease: the puzzling genetics of epileptic disorders

Neuron. 2013 Oct 2;80(1):9-11. doi: 10.1016/j.neuron.2013.09.019. Epub 2013 Oct 2.

Abstract

In the September 12, 2013 issue of Nature, the Epi4K Consortium (Allen et al., 2013) reported sequencing 264 patient trios with epileptic encephalopathies. The Consortium focused on genes exceptionally intolerant to sequence variations and found substantial interconnections with autism and intellectual disability gene networks.

Publication types

  • Comment

MeSH terms

  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mutation / genetics*
  • Spasms, Infantile / genetics*