De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
European Journal Of Human Genetics : Ejhg
Synofzik, Matthis M; Helbig, Katherine L KL; Harmuth, Florian F; Deconinck, Tine T; Tanpaiboon, Pranoot P; Sun, Bo B; Guo, Wenting W; Wang, Ruiwu R; Palmaer, Erika E; Tang, Sha S; Schaefer, G Bradley GB; Gburek-Augustat, Janina J; Züchner, Stephan S; Krägeloh-Mann, Ingeborg I; Baets, Jonathan J; de Jonghe, Peter P; Bauer, Peter P; Chen, S R Wayne SRW; Schöls, Ludger L; Schüle, Rebecca R