INVESTIGATION OF THE CLINICAL FEATURES OF PERIVENTRICULAR NODULAR HETEROTOPIA

脑室周围结节性异位的临床特征探讨

• 批准号: 7606921
• 负责人: Christopher A. Walsh
• 金额: $ 0.23万
• 依托单位: BETH ISRAEL DEACONESS MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7606921
• 关键词: Aorta; Blood Platelets; Blood Tests; Blood Vessels; Brain; Cardiac; Clinical; Clinical Trials; Cognitive; Computer Retrieval of Information on Scientific Projects Database; Cortical Malformation; Development; Echocardiography; Electroencephalography; Epilepsy; Frequencies; Functional Magnetic Resonance Imaging; Funding; Grant; Heart; Institution; Investigation; Magnetic Resonance Imaging; Motor; Mutation; Nature; Neuropsychological Tests; Nodule; Numbers; Patients; Research; Research Personnel; Resolution; Resources; Source; United States National Institutes of Health; Variant; filamin

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The aim of this study is to characterize in detail the clinical features of periventricular nodular heterotopia (PH), a malformation of cortical development. Patients will undergo a number of noninvasive investigations. Patients will undergo high-resolution MRI of the brain (to delineate radiological variations in their heterotopic nodules), echocardiography and MRI of the heart and aorta (to identify the frequency with which cardiac and vascular anomalies are found in patients with filamin-1 mutations), hematological testing (to assess platelet function in these patients), EEG (to clarify the nature of their seizure disorder), neuropsychological testing (to look for subtle cognitive problems in these high-functioning patients), and functional MRI (to investigate whether the heterotopic nodules become active with cognitive or motor tasks).

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 这项研究的目的是详细介绍脑室结节性杂核（pH）的临床特征，即皮质发育的畸形。患者将接受许多无创调查。 Patients will undergo high-resolution MRI of the brain (to delineate radiological variations in their heterotopic nodules), echocardiography and MRI of the heart and aorta (to identify the frequency with which cardiac and vascular anomalies are found in patients with filamin-1 mutations), hematological testing (to assess platelet function in these patients), EEG (to clarify the nature of their seizure disorder),神经心理学测试（在这些高功能患者中寻找细微的认知问题）和功能性MRI（研究异位结节是否在认知或运动任务下活跃）。