Our Center supports three research projects that are highly complementary and synergistic. The design of these projects exploits several existing cross-institutional collaborations, strategic academic-industry partnerships and many complementary research strengths. Here we briefly describe each research project with an emphasis on the major goals, experimental approaches and interactions with other projects and cores.
Our Center proposes two scientific cores that will serve all of the research projects directly or indirectly.
Parthasarathy S, et al. 2022. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. Am J Hum Genet (Dec 2022)
Seiffert S, et al. 2022. Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine (Sep 2022)