Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study

Original research article by D.A. Dyment et al. (2014).

Read the abstract here.

FORGE (Finding Of Rare disease GEnes) and Care4Rare from Canada conducted a study that examined rare forms of epilepsy with a panel of genes associated with epilepsy disorders.  Of the nine families who participated, eight were found to have different genetic mutations associated with epilepsy.  In one person, a deletion in the SYNGAP1 gene was found. This person had intellectual disability, coordination issues, and absence and atonic epilepsy.