【佳學基因靶向藥物基因檢測】與神經元分化因子 2 (NEUROD2) 突變相關的癲癇性痙攣對聯(lián)合氨己烯酸和大劑量潑尼松龍治療有反應

2022年鮮藥價格表——目的

專題調研腫瘤個體化藥物研究路徑《腫瘤基因計劃》與預防策略的實施度《BMC Neurol》在?2022 Dec 9;22(1):461.發(fā)表了一篇題目為《Case Reports》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Kullasate Sakpichaisakul,?Rachata Boonkrongsak,?Punjama Lertbutsayanukul,?Nareenart Iemwimangsa,?Sommon Klumsathian,?Bhakbhoom Panthan,?Objoon Trachoo等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調了基因信息檢測與分析的重要性。

腫瘤基因檢測及靶向藥物治療研究關鍵詞：

案例報告;癲癇性痙攣,神經元2,潑尼松龍;喜保寧,全外顯子組測序。

腫瘤治療檢測基因臨床應用結果

靶向藥物研究立項的依據：癲癇性痙攣是一種具有多種病因的早期嬰兒癲癇性腦病 (EIEE) 的破壞性形式。早期診斷和更短的治療準備時間對于停止癲癇發(fā)作和優(yōu)化神經發(fā)育結果至關重要?；驒z測已成為癲癇治療不可或缺的一部分，可直接指導管理和計劃生育，并發(fā)現新的靶向治療方法。神經元分化因子 2 (NEUROD2) 變異賊近已成為神經發(fā)育障礙 (NDD) 和具有獨特特征的 EIEE 的原因。然而，關于 NEUROD2 相關 NDD 綜合征癲癇性痙攣治療的臨床和腦電圖反應的信息有限。案例介紹：我們報告了一名東南亞女性患者，在出生后的賊初幾個月內出現了全身發(fā)育遲緩和癲癇性痙攣.一種新的從頭雜合致病性 NEUROD2 變體，p。 E130Q，隨后通過全外顯子組測序鑒定。治療前的腦電圖顯示多灶性獨立尖峰主要出現在兩個后腦區(qū)，并且在聯(lián)合氨己烯酸和高劑量潑尼松龍治療后表現出顯著改善。然而，在停用抗癲癇藥物后出現多個療程的反復。藥物指導及病因判斷的依據：我們提出與新發(fā) NEUROD2 致病性變異相關的癲癇性痙攣對聯(lián)合氨己烯酸和大劑量潑尼松龍治療反應良好。這些發(fā)現可能意味著使用聯(lián)合療法治療 NEUROD2 相關 NDD 綜合征癲癇性痙攣的益處。癲癇性痙攣；神經元2；潑尼松龍;喜保寧；全外顯子組測序。

腫瘤發(fā)生與革命國際數據庫描述：

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.