Abstract

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. This disorder, which is most commonly inherited in an X-linked dominant manner and is associated with mutations in the filamin-1 gene, is characterized by the presence of heterotopic nodules of neurons lining the ventricles of the brain. Clinically, most patients appear to have normal intelligence but suffer from epilepsy. In addition, periventricular heterotopia patients described in an initial series appeared to have a disproportionately high rate of congenital cardiac defects and vascular disease. This study aims to perform a number of noninvasive investigations on patients with periventricular heterotopia.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR001032-31
Application #
7380610
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2006-04-01
Project End
2007-03-31
Budget Start
2006-04-01
Budget End
2007-03-31
Support Year
31
Fiscal Year
2006
Total Cost
$1,006
Indirect Cost

  Institution

Name
Beth Israel Deaconess Medical Center
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code

  Publications

Nowak, Kristen L; You, Zhiying; Gitomer, Berenice et al. (2018) Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 29:571-578
Chung, Chen-Chih; Pimentel Maldonado, Daniela A; Jor'dan, Azizah J et al. (2018) Lower cerebral vasoreactivity as a predictor of gait speed decline in type 2 diabetes mellitus. J Neurol 265:2267-2276
Kline, Emily R; Seidman, Larry J; Cornblatt, Barbara A et al. (2018) Depression and clinical high-risk states: Baseline presentation of depressed vs. non-depressed participants in the NAPLS-2 cohort. Schizophr Res 192:357-363
Simpson, Norah S; Scott-Sutherland, Jennifer; Gautam, Shiva et al. (2018) Chronic exposure to insufficient sleep alters processes of pain habituation and sensitization. Pain 159:33-40
Dai, Weiying; Duan, Wenna; Alfaro, Freddy J et al. (2017) The resting perfusion pattern associates with functional decline in type 2 diabetes. Neurobiol Aging 60:192-202
Brosnahan, Godela M; Abebe, Kaleab Z; Rahbari-Oskoui, Frederic F et al. (2017) Effect of Statin Therapy on the Progression of Autosomal Dominant Polycystic Kidney Disease. A Secondary Analysis of the HALT PKD Trials. Curr Hypertens Rev 13:109-120
Torres, Vicente E; Abebe, Kaleab Z; Schrier, Robert W et al. (2017) Dietary salt restriction is beneficial to the management of autosomal dominant polycystic kidney disease. Kidney Int 91:493-500
Irazabal, María V; Abebe, Kaleab Z; Bae, Kyongtae Ty et al. (2017) Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial. Nephrol Dial Transplant 32:1857-1865
Seidman, Larry J; Shapiro, Daniel I; Stone, William S et al. (2016) Association of Neurocognition With Transition to Psychosis: Baseline Functioning in the Second Phase of the North American Prodrome Longitudinal Study. JAMA Psychiatry 73:1239-1248
Thermenos, Heidi W; Juelich, Richard J; DiChiara, Samantha R et al. (2016) Hyperactivity of caudate, parahippocampal, and prefrontal regions during working memory in never-medicated persons at clinical high-risk for psychosis. Schizophr Res 173:1-12

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