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Can I read A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia on EtoBox?
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia by Niklas Smedemark-Margulies; Catherine A. Brownstein; Sigella Vargas; Sahil K. Tembulkar; Meghan C. Towne; Jiahai Shi; Elisa Gonzalez-Cuevas; Kevin X. Liu; Kaya Bilguvar; Robin J. Kleiman; Min-Joon Han; Alcy Torres; Gerard T. Berry; Timothy W. Yu; Alan H. Beggs; Pankaj B. Agrawal; Joseph Gonzalez-Heydrich is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia about?
We describe a child with onset of command auditory hallucinations and behavioral regression at 6 yr of age in the context of longer standing selective mutism, aggression, and mild motor delays. His genetic evaluation included chromosomal microarray analysis and whole-exome sequencing. Sequencing revealed a previously unreported heterozygous de novo mutation c.385G>A in __ATP1A3__, predicted to result in a p.V129M amino acid change. This gene codes for a neuron-specific isoform of the catalytic α-subunit of the ATP-dependent transmembrane sodium–potassium pump. Heterozygous mutations in this gene have been reported as causing both sporadic and inherited forms of alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism. We discuss the literature on phenotypes associated with known variants in __ATP1A3__, examine past functional studies of the role of ATP1A3 in neuronal function, and describe a novel clinical presentation associated with mutation of this gene.
Who reads A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Niklas Smedemark-Margulies; Catherine A. Brownstein; Sigella Vargas; Sahil K. Tembulkar; Meghan C. Towne; Jiahai Shi; Elisa Gonzalez-Cuevas; Kevin X. Liu; Kaya Bilguvar; Robin J. Kleiman; Min-Joon Han; Alcy Torres; Gerard T. Berry; Timothy W. Yu; Alan H. Beggs; Pankaj B. Agrawal; Joseph Gonzalez-Heydrich
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2016
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)