De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome

Original research article by A. Suls et al. (2013).

Read the abstract here.

Dravet syndrome, typically caused by changes in the SCN1A 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.

Changes in CHD2 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.

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