Marie-Coralie Cornet

Jun 21, 2023 | nature.com | Stephanie Valence |Fowzan S. Alkuraya |Enrico Bertini |Elise Brischoux-Boucher |Ange-Line Bruel |Alfredo Brusco | +27 more

AbstractBRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.

Apr 3, 2023 | jpeds.com | Sandra E. Juul |Bryan A. Comstock |Marie-Coralie Cornet

To assess whether high dose erythropoietin (Epo) treatment of cooled infants with neonatal hypoxic ischemic encephalopathy results in a higher risk of prespecified serious adverse events (SAEs). 500 infants born at ≥36 weeks of gestation with moderate or severe hypoxic ischemic encephalopathy undergoing therapeutic hypothermia were randomized to Epo or placebo on days 1, 2, 3, 4 and 7.