A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop-Reference-Cited by-同舟云学术

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

Published:2024-01 Issue: Volume:5 Page:
ISSN:2633-0040
Container-title:Therapeutic Advances in Rare Disease
language:en
Short-container-title:Therapeutic Advances in Rare Disease

Author:

Savage Margaret C.¹,Bliss Geraldine²^ORCID,Buxbaum Joseph D.³,Farrell Jordan S.¹⁴⁵,Levin April R.¹,Srivastava Siddharth¹,Berry-Kravis Elizabeth⁶,Holder J. Lloyd⁷,Sahin Mustafa¹⁴⁸^ORCID

Affiliation:

1. Department of Neurology, Harvard Medical School, Boston, MA, USA

2. CureSHANK, Beverly Hills, CA, USA

3. Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA

4. Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Boston, MA, USA

5. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA

6. Departments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush Medical Center, Chicago, IL, USA

7. Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USA

8. Kirby Neurobiology Center, Boston Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA

Abstract

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.

Funder

National Institute of Neurological Disorders and Stroke

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

SAGE Publications

Link

https://journals.sagepub.com/doi/pdf/10.1177/26330040241273464

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