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Complementary Antisense Oligonucleotide Treatment and Precision Sodium Channel Modulation for Early Onset SCN2A Developmental and Epileptic Encephalopathy: Emergency Use Case in a Preterm Infant with Refractory Status Epilepticus

Author:Frizzo, Silvana   Wagner, Matias   Zaddach, Malin   Nussbaum, Claudia   Berecki, Geza   Flemmer, Andreas   Heinen, Florian   Spar, Brian   Staudt, Martin   Tacke, Moritz   Wolff, Markus   Fazeli, Walid   Petrou, Steven   Souza, Marcio   Borggraefe, Ingo   

Session Name:P10: Epilepsy/Clinical Neurophysiology (EEG): Clinical Epilepsy Reports and Studies  

Topic:Epilepsy/Clinical Neurophysiology (EEG)  

Program Number:P10.009  

Author Institution:Praxis Precision Medicines, MA  Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics and Comprehensive Epilepsy Center, Ludwig Maxmilians University Hospital  Institute of Human Genetics, Technical University of Munich  Institute for Neurogenomics, Helmholtz Centre Munich, German Research Center for Health and Environment (GmbH), Germany  Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics and Comprehensive Epilepsy Center, Ludwig Maxmilians University Hospital, Germany  Division of Neonatology, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University Hospital, Germany  Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Australia  Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics and Comprehensive Epilepsy Center, Germany  Department of Pediatric Palliative Care, Ludwig Maximilians University Hospital, Germany  Swiss Epilepsy Center, Klinik Lengg AG, Zürich, Switzerland  Department of Pediatric Neurology, Children’s Hospital, University Hospital Bonn, Germany  Praxis Precision Medicines, Boston, MA  

EMERALD: A Phase 3, Randomized, Multi-center, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Efficacy, Safety, Tolerability, and Pharmacokinetics of Relutrigine in Participants with Developmental and Epileptic Encephalopathies