Exome Sequencing Identifying Dual Mutations in Calcium Signaling Genes GNAO1 and ATP2B3 in a Patient with Early Infantile Epileptic Encephalopathy

Medicine and Dentistry

• Age 16%
• Brain Disease 83%
• Cerebellar Ataxia 16%
• Clearance 16%
• Corticotropin 16%
• Developmental Delay 16%
• Epilepsy 16%
• Epileptic Seizure 16%
• Exome Sequencing 33%
• Gene 100%
• Guanine Nucleotide Binding Protein 16%
• Infantile Spasm 16%
• Intracellular Calcium 16%
• Intractable Epilepsy 16%
• Life 16%
• Missense Mutation 33%
• Muscle Spasm 16%
• Partial Seizure 16%
• Patient 16%
• Phenotype 16%
• Prognosis 16%
• Signal Transduction 16%
• Spinocerebellar Ataxia 16%

Neuroscience

• Adrenocorticotropic Hormone 16%
• Ataxia 16%
• Encephalopathy 83%
• Exome Sequencing 16%
• G Protein 16%
• Gene 100%
• Intractable Epilepsy 16%
• Missense Mutation 33%
• Phenotype 16%
• Seizure 33%
• Spinocerebellar Ataxia 16%

Biochemistry, Genetics and Molecular Biology

• Age 16%
• Calcium Cell Level 16%
• Calcium Homeostasis 33%
• Clearance 16%
• Exome Sequencing 33%
• G Protein 16%
• Life 16%
• Missense Mutation 33%
• Mutation 33%
• Nested Gene 100%
• Phenotype 16%
• Signaling Protein 16%