De novo mutations in the classic epileptic encephalopathies

Original research article by Epi4K Consortium et al. (2013).

Read the article here.

The exomes (1% of the entire genome) of 264 “trios” (child and both parents) were sequenced to seek a genetic cause for infantile spasms and another seizure disorder called “Lennox-Gastaut syndrome.” This study identified over 300 de novo (not inherited from either parent) gene changes in 9 genes, including 2 patients with variants in SCN2A. More research and information is needed to determine the association between SCN2A and Lennox-Gastaut syndrome.