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Title: Establishing reliability for Quantitative EEG, Transcranial Doppler, behavioral outcomes and Optical Coherence Tomography in SWS: The next step toward biomarker development - BVMC 6204      
keywords:
Phenotype or Genotype
ID:
PRJNA369589
description:
Sturge-Weber syndrome (SWS) is a rare, congenital syndrome with vascular malformations of the brain, skin and eye. The underlying cause of SWS is unknown and the extent of involvement varies greatly from patient to patient. Those with brain involvement present with seizures, stroke-like episodes and neurologic deficits, usually in infancy. Those with eye involvement frequently develop vision threatening glaucoma and retinal injury. Treatment has been largely symptomatic and hampered by delayed diagnosis and the rarity of the condition. The purpose of this study is to determine the reliability of non-invasive measures to be developed as biomarkers for SWS and to determine inter-rater reliability where appropriate. This includes measuring reliability for: Power asymmetry on Quantitative Electroencephalogram. Asymmetry of Transcranial Doppler velocity and pulsatility. Behavioral outcome measures (PEDI, Erhardt, Modified Rankin Scale) Optical Coherence... (for more see dbGaP study page.)
accesstypes:
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landingpage: http://www.ncbi.nlm.nih.gov/bioproject/PRJNA369589
authentication:
none
authorization:
none
name:
Homo sapiens
ncbiID:
ncbitax:9606
abbreviation:
NCBI
homePage: http://www.ncbi.nlm.nih.gov
ID:
SCR:006472
name:
National Center for Biotechnology Information
homePage: http://www.ncbi.nlm.nih.gov/bioproject
ID:
SCR:004801
name:
NCBI BioProject