Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

Keyphrases

• Gain-of-function mutation 100%
• Dystonia 100%
• DRD1 100%
• Infantile Parkinsonism 100%
• D1 Agonist 50%
• Cyclic Adenosine Monophosphate (cAMP) 25%
• Central Nervous System 25%
• Motor Control 25%
• Structure Function 25%
• Dopamine Deficiency 25%
• Striatum 25%
• Dopamine D1 Receptor 25%
• Dopaminergic System 25%
• Protein Function 25%
• Clinical Features 25%
• Dopaminergic Therapy 25%
• Mutant Protein 25%
• Cellular Dysfunction 25%
• Whole Genome Sequencing 25%
• Disease Genes 25%
• Voluntary Movement Control 25%
• D1 Receptor 25%
• Proband 25%
• New Disease 25%
• Substrate Binding 25%
• Heterologous Expression System 25%
• Neurodevelopmental Impairment 25%
• Chloro 25%
• Dysautonomia 25%
• Homozygous Variant 25%
• GnomAD 25%
• Oculogyric Crisis 25%
• CADD Score 25%
• CSF Neurotransmitters 25%

Neuroscience

• Dopaminergic 100%
• Dystonia 100%
• In Vitro 100%
• Agonist 100%
• Parkinsonism 100%
• Neurotransmitter 50%
• Striatum 50%
• Central Nervous System 50%
• Dopamine Receptor D1 50%
• Cyclic Adenosine Monophosphate 50%
• Dysautonomia 50%
• Motor Control 50%
• Protein Function 50%
• Mutant Protein 50%
• Gene Expression System 50%
• Heterologous Expression 50%
• Whole Genome Sequencing 50%
• Receptor 50%

Biochemistry, Genetics and Molecular Biology

• Agonist 100%
• Dopaminergic 100%
• Neurotransmitter 50%
• Proband 50%
• Protein Function 50%
• Whole Genome Sequencing 50%
• Motor Control 50%
• Gene Expression System 50%
• Heterologous Expression 50%
• Voluntary Movement 50%
• Cyclic Adenosine Monophosphate 50%
• Dopamine Receptor D1 50%
• Mutant Protein 50%