Recurrent GNAO1 Mutations Associated with Developmental Delay and a Movement Disorder

Journal of Child Neurology

Volumn 31, Issue 14, 2016, Pages 1598-1601

  Menke, Leonie A ^a   Engelen, Marc ^a   Alders, Mariel ^a   Odekerken, Vincent J J ^a   Baas, Frank ^a   Cobben, Jan M ^a,b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

chorea; developmental delay; dystonia; epileptic encephalopathy; GNAO1

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; DNA SEQUENCE; ELECTROENCEPHALOGRAPHY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GNAO1 GENE; HUMAN; LENNOX GASTAUT SYNDROME; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; WALKING DIFFICULTY; DEVELOPMENTAL DISORDER; GENETIC ASSOCIATION STUDY; GENETICS; MISSENSE MUTATION; PATHOPHYSIOLOGY; SIBLING;

GNAO1 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN;

CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; GENETIC ASSOCIATION STUDIES; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HUMANS; MALE; MOVEMENT DISORDERS; MUTATION, MISSENSE; SIBLINGS;

EID: 84994415914     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073816666474     Document Type: Article

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