Mutations in the STE20-related kinase adaptor α (STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and cranio-facial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single base pair duplication. We report a novel STRADA gene deletion of exons 7-9 in two sisters from non-consanguineous parents, as well as an improvement in seizure control in one sibling following treatment with sirolimus, an m-Tor inhibitor of potential benefit to patients with this genetic mutation.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.