Article
Rare variants in neuronal excitability genes influence risk for bipolar disorder.
Proceedings of the National Academy of Sciences of the United States of America - 17 Mar 2015
Ament Seth A, Szelinger Szabolcs, Glusman Gustavo, Ashworth Justin, Hou Liping, Akula Nirmala, Shekhtman Tatyana, Badner Judith A, Brunkow Mary E, Mauldin Denise E, Stittrich Anna-Barbara, Rouleau Katherine, Detera-Wadleigh Sevilla D, Nurnberger John I, Edenberg Howard J, Gershon Elliot S, Schork Nicholas, Price Nathan D, Gelinas Richard, Hood Leroy, Craig David, McMahon Francis J, Kelsoe John R, Roach Jared C
Abstract excerpt
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...
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