INVESTIGATION OF THE CLINICAL FEATURES OF PERIVENTRICULAR NODULAR HETEROTOPIA

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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).