De novo loss-of-function mutations in   CHD2< /em> cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome< /strong> < /h2>

Original research article by A. Suls   et al. < /em> (2013) . < /p>

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

Dravet syndrome, typically caused by changes in the   SCN1A   < /em>gene, causes a form of infantile epilepsy that seizure medications often fail to treat. Seizures can occur especially when a child has a fever, and over time the child will experience cognitive decline. This study evaluated nine children who had a clinical diagnosis of Dravet syndrome but did not have a change in the gene typically associated with the condition. < /p>

Changes in   CHD2   < /em>were found in three children from this group, and these changes may explain their seizure history. All three had intellectual disability, fever-sensitive seizures, and myoclonic seizures beginning age 2 or later. The three children in this study have mild intellectual disability, and one of the three children also has a diagnosis of autism. < /p>

The researchers also compared the features of the children they evaluated with those of 13 children with   CHD2   < /em>changes who have been previously described. Several other children were also shorter than average and had a smaller-than-average head size. < /p>