Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

Keyphrases

• Molecular Profiling 100%
• GNAO1 100%
• GTP Hydrolysis 100%
• GNAO1 mutation 100%
• Zn2+ 66%
• Pathogenic Variants 66%
• Treatment Options 33%
• Therapeutic Approaches 33%
• Genetic Analysis 33%
• Motor Dysfunction 33%
• De-novo mutations 33%
• Personalized Treatment 33%
• Molecular Etiology 33%
• Seizure 33%
• Missense 33%
• Unseen 33%
• Mutant Protein 33%
• Missense Variants 33%
• Molecular Analysis 33%
• France 33%
• Developmental Delay 33%
• Clinical Analysis 33%
• Norway 33%
• Cellular Interactions 33%
• Promising Treatment 33%
• Zinc Supplementation 33%
• Protein Variants 33%
• G Protein 33%
• Epileptic Encephalopathy 33%
• Molecular Dissection 33%
• Pediatric Encephalopathy 33%
• GNAO1 Encephalopathy 33%
• Guanine nucleotide 33%
• Developmental Encephalopathy 33%
• Treatment Development 33%
• Molecular Investigation 33%

Biochemistry, Genetics and Molecular Biology

• Guanosine Triphosphate 100%
• Enzymatic Hydrolysis 50%
• Missense 33%
• Mutant Protein 16%
• Cell-Cell Interaction 16%
• G Protein 16%
• Guanine 16%