TY - JOUR
T1 - A roadmap for SHANK3-related Epilepsy Research
T2 - recommendations from the 2023 strategic planning workshop
AU - on behalf of the SHANK3 Epilepsy working group
AU - Savage, Margaret C.
AU - Bliss, Geraldine
AU - Buxbaum, Joseph D.
AU - Farrell, Jordan S.
AU - Levin, April R.
AU - Srivastava, Siddharth
AU - Berry-Kravis, Elizabeth
AU - Holder, J. Lloyd
AU - Sahin, Mustafa
N1 - Publisher Copyright:
© The Author(s), 2024.
PY - 2024/1/1
Y1 - 2024/1/1
N2 - 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.
AB - 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.
KW - autism
KW - epilepsy
KW - mouse models
KW - Phelan-McDermid syndrome
UR - http://www.scopus.com/inward/record.url?scp=85204567832&partnerID=8YFLogxK
U2 - 10.1177/26330040241273464
DO - 10.1177/26330040241273464
M3 - Review article
AN - SCOPUS:85204567832
SN - 2633-0040
VL - 5
JO - Therapeutic Advances in Rare Disease
JF - Therapeutic Advances in Rare Disease
ER -