Search Results - "Cilio, M. Roberta"
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Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study
Published in The Journal of pediatrics (01-07-2016)“…Objective To determine the contemporary etiology, burden, and short-term outcomes of seizures in neonates monitored with continuous video-electroencephalogram…”
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Seizures in Preterm Neonates: A Multicenter Observational Cohort Study
Published in Pediatric neurology (01-07-2017)“…Abstract Objective The purpose of this study was to characterize seizures among preterm neonates enrolled in the Neonatal Seizure Registry , a prospective…”
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Treatment Duration After Acute Symptomatic Seizures in Neonates: A Multicenter Cohort Study
Published in The Journal of pediatrics (01-02-2017)“…We aimed to define determinants of duration of treatment for acute symptomatic neonatal seizures in a contemporary multicenter observational cohort study…”
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Published in Npj genomic medicine (26-05-2023)“…The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority…”
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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Published in Npj genomic medicine (23-10-2023)Get full text
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Synthetic pharmaceutical grade cannabidiol for treatment of refractory infantile spasms: A multicenter phase-2 study
Published in Epilepsy & behavior (01-01-2020)“…Limited data suggest that cannabidiol (CBD) may be effective for treatment of refractory infantile spasms (IS). This study was designed to more rigorously…”
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
Published in Annals of neurology (01-08-2019)“…Objective Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We…”
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Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures
Published in Pediatric research (01-07-2023)“…The blooming of neonatal neurocritical care over the last decade reflects substantial advances in neuromonitoring and neuroprotection. The most commonly used…”
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Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates
Published in Pediatric research (01-07-2023)“…Neonatal intensive care has expanded from cardiorespiratory care to a holistic approach emphasizing brain health. To best understand and monitor brain function…”
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Why monitor the neonatal brain—that is the important question
Published in Pediatric research (01-01-2023)“…A key goal of neonatal neurocritical care is improved outcomes, and brain monitoring plays an essential role. The recent NEST trial 1 reported no outcome…”
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Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage
Published in The Journal of pediatrics (01-03-2022)“…We sought to characterize intracranial hemorrhage (ICH) as a seizure etiology in infants born term and preterm. For infants born term, we sought to compare…”
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Characterization of Death in Infants With Neonatal Seizures
Published in Pediatric neurology (01-12-2020)“…Neonatal seizures are associated with death and neurological morbidity; however, little is known about how neonates with seizures die. This was a prospective,…”
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Associations between Infant and Parent Characteristics and Measures of Family Well-Being in Neonates with Seizures: A Cohort Study
Published in The Journal of pediatrics (01-06-2020)“…To characterize and determine risk factors for key dimensions of well-being at hospital discharge in families of neonates with acute symptomatic seizures. This…”
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Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
Published in Nature genetics (01-12-1996)“…Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurode-generative disorder with brain iron accumulation as a prominent…”
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Seizures and Magnetic Resonance Imaging–Detected Brain Injury in Newborns Cooled for Hypoxic-Ischemic Encephalopathy
Published in The Journal of pediatrics (01-11-2011)“…Objective To describe the association between electrographically detected seizures and brain injury evaluated by magnetic resonance imaging in newborns treated…”
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Timing of cognitive deficits following neonatal seizures: relationship to histological changes in the hippocampus
Published in Brain research. Developmental brain research (26-11-2001)“…Neonatal seizures are frequently associated with cognitive impairment and reduced seizure threshold. Previous studies in our laboratory have demonstrated that…”
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hGFRα-4: a new member of the GDNF receptor family and a candidate for NBIA
Published in Pediatric neurology (01-08-2001)“…Hallervorden-Spatz syndrome (neurodegeneration with brain iron accumulation type 1; OMIM entry 234200) is a rare inherited neurodegenerative disease. In this…”
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