A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

@inproceedings{SmedemarkMargulies2016AND,
  title={A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia},
  author={Niklas Smedemark-Margulies and Catherine Brownstein and Sigella Vargas and Sahil K. Tembulkar and Meghan C. Towne and Jiahai Shi and Elisa Gonzalez-Cuevas and Kevin Z. Liu and Kaya Bilguvar and Robin J Kleiman and Min-Joon Han and Augusto Torres and Gerard Thomas Berry and Timothy W. Yu and Alan H. Beggs and Pankaj B Agrawal and Joseph Gonzalez-Heydrich},
  booktitle={Cold Spring Harbor molecular case studies},
  year={2016}
}
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… CONTINUE READING
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