On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.
Keywords: Phelan-McDermid syndrome; autism; epilepsy; mouse models.
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop Phelan-McDermid Syndrome, a rare genetic disorder linked to the SHANK3 gene, manifests in a spectrum of clinical phenotypes including intellectual disability, autism spectrum disorder, and epilepsy. Epilepsy has been particularly under-investigated in this syndrome, and most of the animal models studied to date do not display seizures. On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identity gaps in knowledge surrounding SHANK3-related epilepsy. Conference attendees included patient families, basic scientists, clinical researchers, clinicians and representatives from the pharmaceutical industry with interest in SHANK3-related epilepsy. This review summarizes the outcome of this conference, including a summary of current state of knowledge and resources available, gaps in our understanding, priorities for future research in this important manifestation of PMS.
© The Author(s), 2024.