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.