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Minigene Assay of an Intronic Variant to Investigate Phenotypic Variability of ATP1A3 Splice Variants

Author:Lara, Orlando   Mochida, Ganeshwaran   Yu, Timothy   Calame, Daniel   Yano, Sho   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.005  

Author Institution:University of Chicago, Chicago, IL  Boston Children’s Hospital, Boston, MA  Baylor College of Medicine, Child Neurology, Houston, TX  

A PRESsing Matter: Acute Intermittent Porphyria with Posterior Reversible Encephalopathy Syndrome-like Features

Author:Beriwal, Nitya   Rapal, Rainier Mark Loidor   Taha, Mohamed   Yano, Sho   Hur, Moon Hee   

Session Name:P6: Child Neurology and Developmental Neurology: ICU and Neuro-oncology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P6.009  

Author Institution:University of Chicago Medicine, Chicago, IL  University of Chicago Medicine, IL