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Dual Genetic Diagnoses: Phelan-McDermid Syndrome and Mitochondrial Neurogastrointestinal Encephalomyopathy

Author:Guzman Karlsson, Mikael   Kannan, Varun   Yarimi, Jonathan   Emrick, Lisa   

Session Name:P9: Child Neurology and Developmental Neurology: Fetal/Neonatal Neurology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.008  

Author Institution:Baylor College of Medicine  Texas Children's Hospital, Houston, TX  

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Author:Chan, Cassie   Emery, Lucy   Aliu, Ermal   Naik, Sunil   Paul, Dustin   Kumar, Ashutosh   

Session Name:P9: Child Neurology and Developmental Neurology: Fetal/Neonatal Neurology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.009  

Author Institution:Penn State Milton S. Hershey Medical Center, Hershey, PA  Penn State Children's Hospital, HERSHEY, PA  Penn State Pediatric Neurology, Hershey, PA  

MEGF10 gene mutations causing a recessive congenital multiminicore myopathy

Author:Faria, Larissa Maria   Soares Barbosa, André Vinicius   Ribeiro Torres, Bruna   de Menezes e Souza Filho, Carlos Eduardo   Silva Thiersch, Laura Maria   de Almeida Fonseca Oliveira, Thaís   

Session Name:P9: Child Neurology and Developmental Neurology: Fetal/Neonatal Neurology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.010  

Author Institution:Faculdade Ciências Médicas de Minas Gerais, Contagem, Brazil  Hospital Infantil João Paulo II, Belo Horizonte, Brazil  Universidade Federal de Minas Gerais, Belo Horizonte, Brazil  

Longitudinal Imaging in Kleefstra Syndrome - Case Report and Literature Review

Author:Castellucci, Giovanni   Juhasz, Csaba   Luat, Aimee   

Session Name:P9: Child Neurology and Developmental Neurology: Fetal/Neonatal Neurology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.011  

Author Institution:Detroit Medical Center Children's Hospital of Michigan, Detroit, MI  

Prechtl’s General Movements performed at writhing age may help target MRI use in the NICU

Author:Chirigos, Allison   Burton, Vera   Maitre, Nathalie   Ostrander, Betsy   

Session Name:P9: Child Neurology and Developmental Neurology: Fetal/Neonatal Neurology 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P9.012  

Author Institution:University of Utah Hospital, Salt Lake City, UT  Kennedy Krieger Institute, Baltimore, MD  Emory University, Atlanta, GA