发育性和癫痫性脑病30，也称为dee30，与中耳腺癌和阿尔茨海默病11有关。与发育性和癫痫性脑病30有关的重要基因是SIK1（盐诱导激酶1），其相关通路/超级通路包括受体酪氨酸激酶信号通路和G-βγ信号通路。附属组织包括眼睛和大脑，相关表型为全球发育延迟和无言语。 DEE30 – Developmental and Epileptic Encephalopathy 30

疾病英文名：DEE30 – Developmental and Epileptic Encephalopathy 30
疾病分类：罕见病 肿瘤类疾病 其它疾病
其他别名：Dee30 Developmental and Epileptic Encephalopathy, 30 Epileptic Encephalopathy, Early Infantile, 30 Eiee30 Encephalopathy, Epileptic, Early Infantile, Type 30
疾病简介：发育性和癫痫性脑病30，也称为dee30，与中耳腺癌和阿尔茨海默病11有关。与发育性和癫痫性脑病30有关的重要基因是SIK1（盐诱导激酶1），其相关通路/超级通路包括受体酪氨酸激酶信号通路和G-βγ信号通路。附属组织包括眼睛和大脑，相关表型为全球发育延迟和无言语。
遗传模式：常染色体显性遗传
发病时间：该疾病的发病时间暂不明确
发病率：该疾病的发病率暂未明确
相关基因：SIK1 MEF2C
罹患DEE30 – Developmental and Epileptic Encephalopathy 30的每位病患的身体状况和症状表现是有所不同的，即使是同一种疾病的患者也有可能出现截然不同的症状和表现。这种现象需要我们关注不同患者之间的差异因素，并且给予个体化的医疗服务。因此，临床医生需要对患者细节进行仔细且全面的评估，尤其是在病情的确诊和治疗方案的制定方面。在治疗过程中，临床医生往往需要参考最新的医学研究和治疗标准，以量身定制适合每个患者的个性化治疗策略。
发病时间
由于遗传、环境、生活方式等各种因素的影响，不同人在患病症状和发病时间方面会有很大的差异。有些疾病具有明显的症状表现，而其他一些疾病则在疾病进展到晚期前可能并不显示任何症状。此外，不同的疾病因素使得它们的发病年龄也会有很大差异。有些疾病主要影响年轻人，而有些则更常见于老年人。了解疾病的临床表现和发病时间对疾病的诊断和早期干预至关重要。
目前发现该病与SIK1，MEF2C相关基因
许多疾病的发生与基因突变存在着一定的关联，这些基因突变可能导致人体某些生理机能的失控或功能障碍。基因突变的不同类型，例如单核苷酸多态性（SNP）或拷贝数变异等，可能会引起不同的疾病。多项研究表明，常见疾病（如糖尿病、心脏病和多种癌症等）往往是由多个基因互相作用的结果。了解基因与疾病之间的关系可以促进针对某些疾病的治疗和预防研究。
靶点药物
基因靶点药物是一种用于治疗疾病的新型药物，它的作用是通过调节基因表达或蛋白功能来干预疾病的发生和发展。这些药物通常是通过识别和选择性地作用于靶点蛋白，从而产生治疗效应。基于疾病发生的机制和分子后台，靶点药物可以分为多种类型，例如针对肿瘤抑制剂、肝脏疾病治疗药物、心血管疾病治疗药物等等。
药物名称
CAS号
研发状态
临床阶段
暂无相关数据
疾病模型
小鼠疾病模型是指通过基因编辑等技术将小鼠的基因组进行改变，使其携带某种特定疾病基因或者缺失某种重要基因，从而提供一个研究该疾病发生机制、药物研发和治疗效果等方面的实验平台。小鼠具有与人类相似的生理结构和基因组，能够较好地模拟人类疾病的发生和发展过程，因此成为了研究疾病的理想模型。同时，通过基因编辑技术引入荧光蛋白等标记，也能够实现疾病信号物质的追踪，并揭示其在疾病发生、发展中的作用，为治疗提供新的思路。
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疾病数据库：MALACARD DVL056 OMIM 616341