Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

David C Schorling, Tobias Dietel, Christina Evers, Katrin Hinderhofer, Rudolf Korinthenberg, Daniel Ezzo, Carsten G Bönnemann, Janbernd Kirschner

Journal: Neuropediatrics 2018;48(5):371-377

PMID: 28628939

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Abstract

Address: Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.; Epilepsy Centre Kork, Kehl-Kork, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, United States.

DOI: 10.1055/s-0037-1603977

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MeSH Terms: Child, Preschool, Developmental Disabilities, Dystonia, Epilepsy, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Humans, Infant, Male, Mutation, Phenotype, Sex Factors, Siblings