KCNQ2 Epileptic Encephalopathy: Overcoming Hurdles to Effective Disease-Modifying Therapy

KCNQ2 癫痫性脑病：克服有效疾病缓解治疗的障碍

• 批准号: 9053030
• 负责人: EDWARD C COOPER
• 金额: $ 1.5万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-21 至 2016-09-20
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9053030
• 关键词: Affect; Basic Science; Birth; Brain; Child; Clinical; Clinical Research; Cognitive; Development; Diagnosis; Discipline; Disease; Encephalopathies; Epilepsy; Food; Funding; Genes; Goals; Infant; International; Knowledge; Language; Lead; Learning; Molecular; Motor; Movement; Neurologist; Participant; Peer Review; Publications; Recurrence; Research; Risk; Scientist; Variant; Voltage-Gated Potassium Channel; Work; autistic behaviour; base; experience; meetings; multidisciplinary; neonate; public health relevance; social; symposium; targeted treatment

 DESCRIPTION (provided by applicant): Variants in the gene KCNQ2 are newly recognized as causes of epileptic encephalopathy. KCNQ2 related illnesses include very severe disorders affecting children from birth, leading to epilepsy and difficulties with brain functions needed for taking food, controlling movement, and learning to speak. About two thirds of affected children are severely to profoundly impacted, and show little or no development of normal cognitive, motor, language, and social milestones. The group of children that do show slowed by partial development are affected by autistic behaviors and risk of recurrent epilepsy. This application seeks funds for a meeting of expert scientists and doctors working to understand this disorder and develop new treatments. Participants include basic scientists with experience studying the voltage-gated potassium channels encoded by KCNQ2 and related genes, geneticists, and neurologists who specialize in diagnosis and treatment of neonates, infants, and children with epileptic encephalopathy. In addition, trainees engaged in research on these topics will attend and present their findings. The goal of the meeting will be to summarize and share current knowledge among participants and across disciplines, and develop specific action items for next steps in basic and clinical research. Findings will also be summarized in a peer reviewed publication.

 描述（由适用提供）：基因KCNQ2中的变体新近被认为是癫痫性脑病的原因。 KCNQ2相关疾病包括从出生开始影响儿童的非常严重的疾病，导致癫痫病和所需的脑功能困难 采取食物，控制运动和学习说话。大约三分之二的受影响儿童受到严重影响，几乎没有或没有形成正常的认知，运动，语言和社会里程碑的发展。确实表现出部分发育放缓的儿童组受到侵略性行为和经常性癫痫的风险的影响。该申请为专家科学家和致力于理解这种疾病并开发新疗法的专家科学家和医生会议寻求资金。参与者包括基础科学家，具有研究由KCNQ2编码的电压门控钾通道以及相关基因，基因和神经科医生，他们专门研究新生儿，婴儿和患有癫痫性脑病的儿童。此外，对这些主题进行研究的实习生将出席并介绍他们的发现。会议的目的是总结和分享参与者和跨学科之间的当前知识，并为基础和临床研究的下一步开发特定的行动项目。调查结果也将在同行评审的出版物中进行总结。