Rare variants in neuronal excitability genes influence risk for bipolar disorder.

@article{Ament2015RareVI,
  title={Rare variants in neuronal excitability genes influence risk for bipolar disorder.},
  author={Seth A. Ament and Szabolcs Szelinger and Gustavo Glusman and Justin Ashworth and Liping Hou and Nirmala Akula and Tatyana Shekhtman and Judith A. Badner and Mary E. Brunkow and Denise E. Mauldin and Anna-Barbara Stittrich and Katherine A. Rouleau and S. D. Detera-Wadleigh and John J I Nurnberger and Howard J. Edenberg and Elliot S. Gershon and Nicholas J. Schork and Nathan D. Price and Richard Gelinas and Leroy E. Hood and David W. Craig and Francis J. McMahon and John Kelsoe and Jared C. Roach},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2015},
  volume={112 11},
  pages={3576-81}
}
We sequenced the genomes of 200 individuals from 41 families multiply affected with bipolar disorder (BD) to identify contributions of rare variants to genetic risk. We initially focused on 3,087 candidate genes with known synaptic functions or prior evidence from genome-wide association studies. BD pedigrees had an increased burden of rare variants in genes encoding neuronal ion channels, including subunits of GABAA receptors and voltage-gated calcium channels. Four uncommon coding and… CONTINUE READING
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