Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

2018/05/22 by Anne Koy, Sebahattin Çırak, Sebahattin Cirak +27 · 25 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Neurogenetic and Muscular Disorders Research #Genetic Syndromes and Imprinting

paper · doi:10.1016/j.jns.2018.05.018

Citations

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

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• Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort. [europepmc]
• KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. [europepmc]
• Insights From Genetic Studies of Cerebral Palsy. [europepmc]
• Paroxysmal Genetic Movement Disorders and Epilepsy. [europepmc]
• Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation. [europepmc]
• Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation. [europepmc]
• Good Response to Deep Brain Stimulation in Two Forms of Inherited Chorea Related to GNAO1 and Neuroacanthocystosis with Illustrative Videos. [europepmc]
• Both subthalamic and pallidal deep brain stimulation are effective for GNAO1 -associated dystonia: three case reports and a literature review. [europepmc]
• Highlighting the Dystonic Phenotype Related to GNAO1. [europepmc]
• DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1. [europepmc]
• Deep brain stimulation in a young child with GNAO1 mutation - Feasible and helpful. [europepmc]
• Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases. [europepmc]
• Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report. [europepmc]
• Visual Function in Children with GNAO1-Related Encephalopathy. [europepmc]
• Phenotypes in children with GNAO1 encephalopathy in China. [europepmc]
• Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies. [europepmc]
• Mitochondrial Metabolism in Major Depressive Disorder: From Early Diagnosis to Emerging Treatment Options. [europepmc]
• Dyskinetic crisis in GNAO1 -related disorders: clinical perspectives and management strategies. [europepmc]
• Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder. [europepmc]
• Bridging the Gap in FDA Approval for Pediatric Neuromodulation Devices. [europepmc]
• Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes. [europepmc]
• Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers. [europepmc]
• Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives. [europepmc]
• [Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report]. [europepmc]