INVESTIGATION OF THE CLINICAL FEATURES OF PERIVENTRICULAR NODULAR HETEROTOPIA

该子项目是利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 中心，不一定是研究者的机构。 本研究的目的是详细描述脑室周围结节性异位（PH）的临床特征，这是一种皮质发育畸形。患者将接受一些非侵入性检查。患者将接受高分辨率的脑部MRI检查（描述异位结节的放射学变化），心脏和主动脉的超声心动图和MRI（以确定在细丝蛋白-1突变患者中发现心脏和血管异常的频率），血液学检测（评估这些患者的血小板功能），EEG（以澄清他们癫痫发作的性质），神经心理学测试（寻找这些高功能患者的微妙认知问题）和功能性MRI（调查异位结节是否在认知或运动任务中变得活跃）。

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).