Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis

(2016) Sanem Yilmaz et al.   CHILDS NERVOUS SYSTEM

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

(2016) Anna Marcé-Grau et al.   Orphanet Journal of Rare Diseases

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

(2016) Amitha L. Ananth et al.   PEDIATRIC NEUROLOGY

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

(2016) Pawel Gawlinski et al.   PEDIATRIC NEUROLOGY

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

(2015) Chun-Yiu Law et al.   CLINICA CHIMICA ACTA

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

(2015) Hirotomo Saitsu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation

(2015) Neil Kulkarni et al.   JOURNAL OF CHILD NEUROLOGY

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS