De novo mutations in the classic epileptic encephalopathies
Original research article by Epi4K and EPGP investigators.
Read the article here.
The exomes, which make up 1% of the genome, of 264 “trios” (a child with epilepsy and both birth parents) were sequenced to seek a genetic cause for infantile spasms and another seizure disorder called Lennox-Gastaut syndrome. This study found over 300 gene changes that were not inherited from either parent, including a change in CHD2 in one child. This child had myoclonic seizures beginning at age 6 months and was developmentally delayed.