【佳学基因靶向药物基因检测】与神经元分化因子 2 (NEUROD2) 突变相关的癫痫性痉挛对联合氨己烯酸和大剂量泼尼松龙治疗有反应

2022年鲜药价格表——目的

专题调研肿瘤个体化药物研究路径《肿瘤基因计划》与预防策略的实施度《BMC Neurol》在 2022 Dec 9;22(1):461.发表了一篇题目为《Case Reports》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Kullasate Sakpichaisakul, Rachata Boonkrongsak, Punjama Lertbutsayanukul, Nareenart Iemwimangsa, Sommon Klumsathian, Bhakbhoom Panthan, Objoon Trachoo等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

案例报告;癫痫性痉挛,神经元2,泼尼松龙;喜保宁,全外显子组测序。

肿瘤治疗检测基因临床应用结果

靶向药物研究立项的依据：癫痫性痉挛是一种具有多种病因的早期婴儿癫痫性脑病 (EIEE) 的破坏性形式。早期诊断和更短的治疗准备时间对于停止癫痫发作和优化神经发育结果至关重要。基因检测已成为癫痫治疗不可或缺的一部分，可直接指导管理和计划生育，并发现新的靶向治疗方法。神经元分化因子 2 (NEUROD2) 变异最近已成为神经发育障碍 (NDD) 和具有独特特征的 EIEE 的原因。然而，关于 NEUROD2 相关 NDD 综合征癫痫性痉挛治疗的临床和脑电图反应的信息有限。案例介绍：我们报告了一名东南亚女性患者，在出生后的最初几个月内出现了全身发育迟缓和癫痫性痉挛.一种新的从头杂合致病性 NEUROD2 变体，p。 E130Q，随后通过全外显子组测序鉴定。治疗前的脑电图显示多灶性独立尖峰主要出现在两个后脑区，并且在联合氨己烯酸和高剂量泼尼松龙治疗后表现出显着改善。然而，在停用抗癫痫药物后出现多个疗程的反复。药物指导及病因判断的依据：我们提出与新发 NEUROD2 致病性变异相关的癫痫性痉挛对联合氨己烯酸和大剂量泼尼松龙治疗反应良好。这些发现可能意味着使用联合疗法治疗 NEUROD2 相关 NDD 综合征癫痫性痉挛的益处。癫痫性痉挛；神经元2；泼尼松龙;喜保宁；全外显子组测序。

肿瘤发生与革命国际数据库描述：

Background: Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental outcome. Genetic testing has become an integral part of epilepsy care that directly guides management and family planning and discovers new targeted treatments. Neuronal differentiation Factor 2 (NEUROD2) variants have recently been a cause of neurodevelopmental disorders (NDDs) and EIEEs with distinctive features. However, there is limited information about the clinical and electroencephalographic response of epileptic spasm treatment in NEUROD2-related NDD syndrome.Case presentation: We report a female patient of Southeast Asian ethnicity with global developmental delay and epileptic spasms commencing in the first few months of life. A novel de novo heterozygous pathogenic NEUROD2 variant, p. E130Q, was subsequently identified by whole-exome sequencing. Electroencephalogram before treatment showed multifocal independent spikes predominantly in both posterior head regions and demonstrated marked improvement following combined vigabatrin and high-dose prednisolone treatment. However, multiple courses of relapse occurred after weaning off the antiseizure medication.Conclusions: We propose that epileptic spasms related to de novo NEUROD2 pathogenic variant respond well to combined vigabatrin and high-dose prednisolone therapy. These findings may imply the benefit of using combination therapy to treat epileptic spasms in NEUROD2-related NDD syndrome.Keywords: Case report; Epileptic spasms; NEUROD2; Prednisolone; Vigabatrin; Whole-exome sequencing.

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