STXBP1 as a therapeutic target for epileptic encephalopathy

Stamberger Hannah; Weckhuysen Sarah; De Jonghe Peter

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STXBP1 as a therapeutic target for epileptic encephalopathy

机译：STXBP1作为癫痫脑病的治疗靶标

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Introduction: STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). In this review we hypothesize about the potential of STXBP1 as a therapeutic target in the field of epileptic encephalopathies.

机译：简介：STXBP1是突触前囊泡释放的必需蛋白质。 STXBP1中的突变已与一系列（癫痫）神经发育障碍统称为STXBP1-脑病变（STXBP1-E）。在本综述中，我们假设STXBP1作为癫痫脑病领域的治疗目标的潜力。

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《Expert opinion on therapeutic targets》 |2017年第12期|共10页
作者
Stamberger Hannah; Weckhuysen Sarah; De Jonghe Peter;
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作者单位

VIB Neurogenet Grp Ctr Mol Neurol Antwerp Belgium;

VIB Neurogenet Grp Ctr Mol Neurol Antwerp Belgium;

VIB Neurogenet Grp Ctr Mol Neurol Antwerp Belgium;

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原文格式 PDF
正文语种 eng
中图分类药学;
关键词
Epileptic encephalopathy; MUNC18-1; neurodevelopmental disorder; precision medicine; STXBP1; therapeutic target;

机译：癫痫脑病;munc18-1;神经发育障碍;精确药;stxbp1;治疗目标;

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专利

1. STXBP1 as a therapeutic target for epileptic encephalopathy [J] . Stamberger Hannah, Weckhuysen Sarah, De Jonghe Peter Expert opinion on therapeutic targets . 2017,第7a12期

机译：STXBP1作为癫痫脑病的治疗靶标
2. De novo mutations of STXBP1 STXBP1 in Chinese children with early onset epileptic encephalopathy [J] . Li T., Cheng M., Wang J., Genes, brain, and behavior . 2018,第8期

机译：患有早期发病性脑病的中国儿童STXBP1 STXBP1的Novo突变
3. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. [J] . Milh M, Villeneuve N, Chouchane M, Epilepsia: Journal of the International League against Epilepsy . 2011,第10期

机译：具有早期发作性癫痫性脑病和STXBP1突变的患者的癫痫和非癫痫特征。
4. Genetic investigations of the epileptic encephalopathies: Recent advances [C] . C.T. Myers, H.C. Mefford Neurobiology of Epilepsy :From Genes to Networks (Meeting) . 2016

机译：癫痫脑病的遗传调查：最近的进展
5. Evaluation of a Precision Medicine Approach for hnRNP U-Related Developmental Epileptic Encephalopathy Using a Mouse Model of Disease [D] . Dugger, Sarah Anne. 2020

机译：使用小鼠疾病模型评估HNRNP U相关发育癫痫患者的精确药物方法
6. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease [O] . Krami Al Mehdi, Benhnini Fouad, Elkarhat Zouhair, 2019

机译：早期婴儿癫痫脑病患者STXBP1基因NSSNP的分子建模与动力学研究
7. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations [O] . Milh Mathieu, Villeneuve Nathalie, Chouchane Mondher, 2011

机译：早期发作的癫痫性脑病和STXBP1突变患者的癫痫和非癫痫特征

STXBP1 as a therapeutic target for epileptic encephalopathy

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