The sacred disease: The puzzling genetics of epileptic disorders Journal Article


Author(s): Novarino, Gaia; Baek, SeungTae; Gleeson, Joseph G
Article Title: The sacred disease: The puzzling genetics of epileptic disorders
Affiliation
Abstract: In the September 12, 2013 issue of Nature, the Epi4K Consortium (. Allen etal., 2013) reported sequencing 264patient 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.
Keywords: gene mutation; epilepsy; loss of function mutation; exome; sequence analysis; 4 aminobutyric acid A receptor beta3; mammalian target of rapamycin; ubiquitin protein ligase NEDD4; autism; autosomal recessive inheritance; de novo mutation; epileptic encephalopathy; GABRB3 gene; genetic risk; happy puppet syndrome; infantile spasm; intellectual impairment; Lennox Gastaut syndrome; somatic mutation; whole exome sequencing; Intellectual Disability; Spasms
Journal Title: Neuron
Volume: 80
Issue 1
ISSN: 0896-6273
Publisher: Elsevier  
Date Published: 2013-10-02
Start Page: 9
End Page: 11
DOI: 10.1016/j.neuron.2013.09.019
Open access: no