A5018703759- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Advanced MRI Techniques and Applications
- Neonatal Respiratory Health Research
- Epilepsy research and treatment
- Cerebrospinal fluid and hydrocephalus
- Prenatal Screening and Diagnostics
- Hedgehog Signaling Pathway Studies
- Spinal Dysraphism and Malformations
- Congenital Heart Disease Studies
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Infectious Encephalopathies and Encephalitis
- Glioma Diagnosis and Treatment
- RNA regulation and disease
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Traumatic Brain Injury and Neurovascular Disturbances
- Mitochondrial Function and Pathology
- Infant Development and Preterm Care
- RNA modifications and cancer
- Atomic and Subatomic Physics Research
- RNA Research and Splicing
- Genetic and Kidney Cyst Diseases
University of California, San Francisco
2015-2024
University of California System
2012-2024
Neurological Surgery
2001-2023
UCSF Benioff Children's Hospital
2013-2023
Erasmus MC
2019-2021
University of Washington
2008-2021
University Medical Center
2021
University of Minnesota
1999-2021
Laboratoire d’Imagerie Biomédicale
2012-2020
University Medical Center Utrecht
2018-2019
Purpose: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and very frequently associated with epilepsy in both children adults. A broad spectrum histopathology has been included the diagnosis FCD. An ILAE task force proposes an international consensus classification system to better characterize specific clinicopathological FCD entities. Methods: Thirty-two Task Force members have reevaluated available data on electroclinical presentation, imaging,...
Congenital heart disease in newborns is associated with global impairment development. We characterized brain metabolism and microstructure, as measures of maturation, congenital before they underwent surgery.We studied 41 term disease--29 who had transposition the great arteries 12 single-ventricle physiology--with use magnetic resonance imaging (MRI), spectroscopy (MRS), diffusion tensor (DTI) cardiac surgery. calculated ratio N-acetylaspartate to choline (which increases maturation),...
ACR Guidance Document for Safe MR Practices: 2007Emanuel Kanal1, A. James Barkovich2, Charlotte Bell3, P. Borgstede4, William G. Bradley, Jr.5, Jerry W. Froelich6, Tobias Gilk7, J. Rod Gimbel8, John Gosbee9, Ellisa Kuhni-Kaminski1, Lester, Jr.10, Nyenhuis11, Yoav Parag1, Daniel Schaefer12, Elizabeth Sebek-Scoumis1, Jeffrey Weinreb13, Loren Zaremba14, Pamela Wilcox15, Leonard Lucey15, Nancy Sass15 and the Blue Ribbon Panel on SafetyAudio Available | Share
The pattern of normal white-matter maturation as demonstrated with high-field-strength magnetic resonance (MR) imaging was investigated. Eighty-two neurologically infants were examined a 1.5-T unit use spin-echo T1-weighted and T2-weighted pulse sequences. ranged in age from 4 days to 2 years. images assessed for qualitative changes white matter relative gray 14 anatomic areas the brain correlated patient's age. MR showed that occur an orderly manner, commencing stem progressing cerebellum...
The many recent discoveries concerning the molecular biologic bases of malformations cortical development and discovery new such have rendered previous classifications out date. A revised classification is proposed, based on stage (cell proliferation, neuronal migration, organization) at which was first affected. categories been created known developmental steps, pathologic features, genetics (when possible), and, when necessary, neuroimaging features. In cases, precise genetic features are...
The mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this subdivision largely unknown. Here, we show mutations in GPR56, which encodes an orphan G protein-coupled receptor (GPCR) with a large extracellular domain, cause human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP disorganized lamination most severe frontal cortex. Our data...
Objective: To clarify whether patients with clinical diagnoses of encephalitis/encephalopathy a reversible lesion in the splenium corpus callosum (SCC) share common features. Methods: Possible isolated SCC on MRI were collected retrospectively. Their clinical, laboratory, and radiologic data reviewed. Results: Fifteen identified among 22 referred for this study. All 15 had relatively mild courses. Twelve disorders consciousness. Eight seizures, three them received antiepileptic drugs....
Craniofacial disproportion at birth
Although there is increasing recognition of the role somatic mutations in genetic disorders, prevalence neurodevelopmental disease and optimal techniques to detect mosaicism have not been systematically evaluated.Using a customized panel known candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) leukocyte-derived DNA samples from 158 persons including double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria...
Background and Purpose— Brain injury is common in newborns with congenital heart disease (CHD) requiring neonatal surgery. The purpose of this study to define the risk factors for preoperative postoperative brain injuries their association functional cardiac anatomic groups. Methods— Sixty-two neonates CHD were studied MRI, 53 received scans. Clinical therapeutic characteristics compared without newly acquired injuries. A subset 16 consecutive patients was monitored intraoperative cerebral...
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes FCD/HME brain tissue identified an etiology 27 66 cases (41%). Radiographically indistinguishable lesions somatic activating AKT3, MTOR, PIK3CA germline loss-of-function DEPDC5, NPRL2, TSC1/2, including TSC2 isolated HME demonstrating a "two-hit" model. Mutations the same gene cause disease continuum from FCD...