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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R. Synofzik M, et al. Among authors: palmaer e. Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20. Eur J Hum Genet. 2018. PMID: 29925855 Free PMC article.
When moments matter: Finding answers with rapid exome sequencing.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. Powis Z, et al. Among authors: palmaer e. Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24. Mol Genet Genomic Med. 2020. PMID: 31872981 Free PMC article.