Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies

Keyphrases

• Molecular Profiling 100%
• Novel mutation 100%
• Clinical Profiling 100%
• Epileptic Encephalopathy 100%
• GNAO1 100%
• Developmental Encephalopathy 100%
• Pharmacological Profile 100%
• Associated Disorders 50%
• Infantile Epileptic Encephalopathy 33%
• Guanine nucleotide 33%
• Chaperone 16%
• Movement Disorders 16%
• Modeling Approach 16%
• China 16%
• Brain Development 16%
• Molecular Etiology 16%
• Unseen 16%
• Zinc 16%
• G Protein-coupled Receptor 16%
• Missense mutation 16%
• Novel Form 16%
• France 16%
• Late-onset 16%
• Clinical Approach 16%
• Novel Pathogenic Variant 16%
• Crucial Function 16%
• G Protein 16%
• Neurological Symptoms 16%
• Brain Physiology 16%
• Plasma Membrane Localization 16%
• Mutation Sites 16%
• Molecular Investigation 16%
• Treatment Perspectives 16%
• Cellular Approach 16%
• Molecular Treatment 16%
• Molecular Approaches 16%

Biochemistry, Genetics and Molecular Biology

• Guanine 100%
• Brain Development 50%
• Missense Mutation 50%
• Cell Membrane 50%
• G Protein Coupled Receptor 50%
• Arginine 50%
• G Protein 50%
• Targeted Therapy 50%