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

Original research article by Epi4K Consortium� � et al. < /em> (2013) . < /p>

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

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< /em> < /i> . More research and information is needed to determine the association between� � SCN2A< /em> < /i> � �and Lennox-Gastaut syndrome. < /p>