De novo mutations in the classic epileptic encephalopathies< /strong> < /h2>

Original research article by Epi4K and EPGP investigators. < /p>

Read the article here< /a> . < /p>

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< /em> in one child. This child had myoclonic seizures beginning at age 6 months and was developmentally delayed. < /p>