Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Keyphrases

• Apraxia 100%
• Autism Spectrum Disorder 100%
• Clinical Phenotype 10%
• Cyclic AMP-dependent Protein Kinase 10%
• Dyspraxia 10%
• Embryonal Development 10%
• Embryonic Development 10%
• Expression Construct 10%
• Genome Analysis 10%
• Global Developmental Delay 10%
• Heterozygous Missense Variant 10%
• In Vivo Analysis 20%
• Missense Variants 10%
• Molecular Phenotype 10%
• Neurodevelopmental Disorders 100%
• Pain Sensitivity 100%
• Patient Cohort 10%
• People with Intellectual Disabilities 10%
• Phenotypic Data 10%
• PRKAR1B 100%
• Protein Kinase 10%
• Protein Kinase A Activity 10%
• Trio Exome 10%
• Unrelated Individuals 10%

Neuroscience

• Apraxia 100%
• In Vitro 66%
• Neurodevelopmental Disorder 100%
• Nociception 33%
• Pervasive Developmental Disorder 100%
• Protein Kinase A 100%

Biochemistry, Genetics and Molecular Biology

• Embryogenesis 66%
• Exome 33%
• Hypoalgesia 33%
• Intellectual Disability 33%
• Missense 66%
• Protein Kinase A 100%