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（由申请人提供）：基因KCNQ2的变异体是新认识到的癫痫性脑病的原因。KCNQ2相关疾病包括从出生起就影响儿童的非常严重的疾病，导致癫痫和大脑功能障碍， 进食、控制动作和学习说话。大约三分之二的受影响儿童受到严重到深刻的影响，很少或没有正常的认知，运动，语言和社会里程碑的发展。部分发育迟缓的儿童受到自闭症行为和癫痫复发风险的影响。该申请旨在为专家科学家和医生的会议寻求资金，以了解这种疾病并开发新的治疗方法。参与者包括具有研究KCNQ2编码的电压门控钾通道和相关基因经验的基础科学家，遗传学家和专门诊断和治疗新生儿，婴儿和癫痫性脑病儿童的神经学家。此外，从事这些专题研究的受训人员将出席会议并介绍他们的研究结果。会议的目标是总结和分享与会者和跨学科的现有知识，并为基础和临床研究的下一步制定具体的行动项目。研究结果也将在同行评审的出版物中进行总结。