Journal article
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
M Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez-Palma, ET Axeen, CY Hung, H Olson, L Swanson, I Anselm, LC Briere, FA High, DA Sweetser, S Kayani, M Snyder, S Calvert, IE Scheffer, E Yang, JL Waugh Show all
Epilepsia | WILEY | Published : 2019
DOI: 10.1111/epi.14653
Abstract
Objective: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. Methods: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. Results: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), dev..
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Awarded by National Institutes of Health
Funding Acknowledgements
A.R. was supported by a Fellowship of the Belgian American Educational Foundation and by a Fulbright Program grant sponsored by the Bureau of Educational and Cultural Affairs of the United States Department of State and administered by the Institute of International Education. A.P. was supported by the Boston Children's Hospital Translational Research Program. The Undiagnosed Disease Network was supported by the National Institutes of Health (NIH) Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award numbers U01HG007690 and U01HG007942. I.E.S. was supported by an Australian National Health and Medical Research Council Program Grant and Practitioner Fellowship.