Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study< /strong> < /h2>

Original research article by D.A. Dyment   et al. < /em> (2014) . < /p>

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

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. Â   Of the nine families who participated, eight were found to have different genetic mutations associated with epilepsy. Â   In one person, a deletion in the SYNGAP1 gene was found. This person had intellectual disability, coordination issues, and absence and atonic epilepsy. < /p>