"Is it a seizure?" Prediction tool for seizure likelihood in children aged 1-24 months admitted for electroencephalographic monitoring of paroxysmal, rhythmic, and repetitive events.

Objective: Paroxysmal, rhythmic, and repetitive events (PRREs) during infancy can be concerning for possible seizures, especially following perinatal brain injuries. The workup for establishing whether a PRRE represents a seizure involves the use of continuous video-electroencephalography (cVEEG) for event characterization. This study aims to determine the diagnostic yield of cVEEG for evaluating events concerning for seizures in children aged 1-24 months.

A novel clinical risk scoring system for neurodevelopmental outcomes among survivors of neonatal hypoxic-ischemic encephalopathy (HIE).

Objective: We aimed to develop a risk scoring system as a predictor of 24-month neurodevelopmental outcomes (cognitive, language, and motor) for neonates treated with therapeutic hypothermia for hypoxic-ischemic encephalopathy (HIE).

Methods: This was a chart review of infants with HIE treated with therapeutic hypothermia who were admitted to the Neonatal Intensive Care Unit (NICU) at the University of Michigan between 2009 and 2019 and followed in the neonatal developmental clinic until 24 months of age. We examined bivariate associations between the neonatal characteristics and Bayley-III scores.

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.