Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

被引：2

作者：

Marotta, Nicolas ^{[1
,2
,3
,4
]}

Boland, Michael J. ^{[2
,3
]}

Prosser, Benjamin L. ^{[2
,3
,4
]}

机构：

[1] Univ Penn, Perelman Sch Med, Dept Biochem & Biophys, Philadelphia, PA USA

[2] Univ Penn, Perelman Sch Med, Ctr Epilepsy & Neurodev Disorders ENDD, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[4] Univ Penn, Perelman Sch Med, Penn Muscle Inst, Dept Physiol, Philadelphia, PA USA

来源：

CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE | 2024年 / 54卷 / 08期

关键词：

MOUSE MODEL; MUTATIONS; ENCEPHALOPATHY; PHENOTYPES; GENE; EPILEPSY; AUTISM;

D O I：

10.1016/j.cppeds.2024.101576

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and SYNGAP1 disorders. Here we review the known clinical features of these disorders, highlight the biological role of STXBP1 and SYNGAP1, and discuss our current understanding of pathogenic mechanisms and therapeutic development. Finally, we provide our perspective as scientists and parents of children with NDDs, and comment on the current challenges for both clinical and basic science endeavors.

引用

页数：6

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