Highlighting the Dystonic Phenotype Related to GNAO1

Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.

[1]  H. Saitsu,et al.  An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation , 2022, neurogenetics.

[2]  R. Blakely,et al.  Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders , 2021, Cell reports.

[3]  I. König,et al.  Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review , 2021, Movement disorders : official journal of the Movement Disorder Society.

[4]  Kelly A. Mills,et al.  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. , 2020, Brain : a journal of neurology.

[5]  D. Bendetowicz,et al.  Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders , 2020, Expert review of neurotherapeutics.

[6]  C. Cytrynbaum,et al.  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. , 2020, American journal of human genetics.

[7]  N. Drouot,et al.  Increased diagnostic yield in complex dystonia through exome sequencing. , 2020, Parkinsonism & related disorders.

[8]  N. Brunetti‐Pierri,et al.  Two cases of 16q12.1q21 deletions and refinement of the critical region. , 2020, European journal of medical genetics.

[9]  Y. Shimo,et al.  Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report , 2020, Journal of the Neurological Sciences.

[10]  S. Bouquillon,et al.  Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication , 2019, neurogenetics.

[11]  E. Bertini,et al.  Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study , 2019, Front. Genet..

[12]  A. Bentivoglio,et al.  Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study , 2019, Movement disorders : official journal of the Movement Disorder Society.

[13]  Michael K. Hutchinson,et al.  A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus , 2019, Movement disorders : official journal of the Movement Disorder Society.

[14]  E. Bertini,et al.  Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. , 2019, Parkinsonism & related disorders.

[15]  I. Scheffer,et al.  Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region , 2019, Epilepsia.

[16]  L. Cif,et al.  Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia , 2018, Journal of the Neurological Sciences.

[17]  R. Neubig,et al.  A mechanistic review on GNAO1-associated movement disorder , 2018, Neurobiology of Disease.

[18]  C. Garel,et al.  Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies , 2018, Genetics in Medicine.

[19]  M. Tarailo-Graovac,et al.  GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation , 2018, Journal of child neurology.

[20]  Bradley L Schlaggar,et al.  Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. , 2016, Pediatric neurology.

[21]  T. Grebe,et al.  Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation , 2016, Journal of child neurology.

[22]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[23]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[24]  Naomichi Matsumoto,et al.  De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. , 2013, American journal of human genetics.

[25]  A. Lang,et al.  Mutations in GNAL cause primary torsion dystonia , 2012, Nature Genetics.

[26]  S. Schneider,et al.  Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. , 2012, American journal of human genetics.

[27]  J. Girault,et al.  Persistent Increase in Olfactory Type G-Protein α Subunit Levels May Underlie D1 Receptor Functional Hypersensitivity in Parkinson Disease , 2004, The Journal of Neuroscience.

[28]  N. Mahant,et al.  GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome , 2022 .