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

Neuropediatrics. 2017 Oct;48(5):371-377. doi: 10.1055/s-0037-1603977. Epub 2017 Jun 19.

Authors

David C Schorling¹, Tobias Dietel², Christina Evers³, Katrin Hinderhofer³, Rudolf Korinthenberg¹, Daniel Ezzo⁴, Carsten G Bönnemann⁴, Janbernd Kirschner¹

Affiliations

¹ Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.
² Epilepsy Centre Kork, Kehl-Kork, Germany.
³ Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
⁴ Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, United States.

PMID: 28628939
DOI: 10.1055/s-0037-1603977

No abstract available

Publication types

Case Reports
Review

MeSH terms

Child, Preschool
Developmental Disabilities / diagnostic imaging
Developmental Disabilities / genetics*
Developmental Disabilities / physiopathology*
Developmental Disabilities / therapy
Dystonia / diagnostic imaging
Dystonia / drug therapy
Dystonia / genetics
Dystonia / physiopathology
Epilepsy / diagnostic imaging
Epilepsy / drug therapy
Epilepsy / genetics*
Epilepsy / physiopathology*
Female
GTP-Binding Protein alpha Subunits, Gi-Go / genetics*
Humans
Infant
Male
Mutation*
Phenotype
Sex Factors
Siblings

Substances

GNAO1 protein, human
GTP-Binding Protein alpha Subunits, Gi-Go