Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature
Authors
David C. Schorling
1
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of
Freiburg, Freiburg, Germany
Tobias Dietel
2
Epilepsy Centre Kork, Kehl-Kork, Germany
Christina Evers
3
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
Katrin Hinderhofer
3
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
Rudolf Korinthenberg
1
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of
Freiburg, Freiburg, Germany
Daniel Ezzo
4
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute
of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, United States
Carsten G. Bönnemann
4
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute
of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, United States
Janbernd Kirschner
1
Department of Neuropediatrics and Muscle Disorders, Medical Center, University of
Freiburg, Freiburg, Germany