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Recurrent c.2152 delT Frameshift Mutation in IRF2BPL Gene Associated with West Syndrome and NEDAMSS Disease

Author:Von Quednow, Enzo   Martinez Gonzalez, Marta   Bragado, Sara   Garcia-Quiroa, Luini   Carrascosa-Romero, María   

Session Name:P2: Child Neurology and Developmental Neurology: Epilepsy  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.010  

Author Institution:Albacete University Hospital Complex, Tenerife, Spain  Albacete University Hospital Complex, Albacete, Spain  Brigham Young University, Madison, WI  

Ethosuximide Induced Raynaud's Phenomenon in a Child with Childhood Absence Epilepsy

Author:Sivaji, Akshaya Rathin   Fittro, Jennifer   Chirla, Adina   Namrow, Alexander   Park, Jun   

Session Name:P2: Child Neurology and Developmental Neurology: Epilepsy  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.011  

Author Institution:University Hospitals, Cleveland Medical Center, Cleveland, OH  UH Rainbow Babies & Children's Hospital, Cleveland Medical Center, Cleveland, OH  

MSTO1-related Autosomal Recessive Mitochondrial Myopathy and Ataxia Syndrome: A Case Series and Description of Phenotypes

Author:Sharma, Rishi   Schimmenti, Lisa   Selcen, Duygu   Smith, Benn   Pinto e Vairo, Filippo   Dhamija, Radhika   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.012  

Author Institution:Mayo Clinic, Rochester, MN  Mayo Clinic Scottsdale, Scottsdale, AZ  

Isolated Neurologic Manifestations of Adolescent-Onset Wilson Disease

Author:Stockman, John   Bogosian, Claire   Saucier, Laura E.   Jeste, Shafali S.   Rosser, Tena   Santoro, Jonathan D.   Ahsan, Nusrat   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.013  

Author Institution:Children's Hospital Los Angeles, Los Angeles, CA  

Double Trouble: Adenylosuccinate Lyase Deficiency- a Study in Phenotypic Variation

Author:Vedula, Apoorva   Rawat, Akash   Koppanatham, Aishwarya   Varkey, Thomas   McVige, Jennifer   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.014  

Author Institution:Osmania Medical College, Hyderabad, India  Himalayan Institute of medical sciences, Dehradun, India  Dent Neurological Institute, Amherst, NY