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2
Expression profiles of the autism-related SHANK proteins in the human brain.自闭症相关 SHANK 蛋白在人脑中的表达谱。
BMC Biol. 2023 Nov 13;21(1):254. doi: 10.1186/s12915-023-01712-0.
3
Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.Shank3 在 PV 神经元中的缺失与异常行为和神经元功能有关，而增加 GABA 能信号可以挽救这些异常。
Mol Autism. 2023 Aug 1;14(1):28. doi: 10.1186/s13229-023-00557-2.
4
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.早期成熟和过度兴奋是源自不同 ASD 相关突变的皮质神经元的共同表型。
Transl Psychiatry. 2023 Jul 6;13(1):246. doi: 10.1038/s41398-023-02535-x.
5
Updated consensus guidelines on the management of Phelan-McDermid syndrome.《关于 Phelan-McDermid 综合征管理的更新共识指南》。
Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1.
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Eur J Med Genet. 2023 Jul;66(7):104771. doi: 10.1016/j.ejmg.2023.104771. Epub 2023 Apr 28.
7
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.SHANK3 相关的佩兰-麦克德米德综合征的定义和临床变异性。
Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31.
8
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10
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SHANK3相关癫痫研究路线图：2023年战略规划研讨会的建议

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

作者信息

Savage Margaret C, Bliss Geraldine, Buxbaum Joseph D, Farrell Jordan S, Levin April R, Srivastava Siddharth, Berry-Kravis Elizabeth, Holder J Lloyd, Sahin Mustafa

机构信息

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

CureSHANK, Beverly Hills, CA, USA.

出版信息

Ther Adv Rare Dis. 2024 Sep 5;5:26330040241273464. doi: 10.1177/26330040241273464. eCollection 2024 Jan-Dec.

DOI:10.1177/26330040241273464
PMID:39295819
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11409305/
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.

摘要

2023年9月27日，CureSHANK非营利基金会在马萨诸塞州波士顿主办了一次会议，以找出围绕与SHANK3相关的癫痫的知识空白，目标是确定未来的研究重点和建议。除了患者家庭和CureSHANK社区成员外，会议参与者还包括广泛的临床前和临床研究人员以及在与SHANK3相关的癫痫方面具有专业知识的临床医生，以及制药行业的代表。在此，我们总结会前全面审议的结果和会议的最终建议，包括（1）与临床科学相关的知识空白，（2）与临床前科学相关的知识空白，以及（3）未来的研究重点。