Tolonen, Jussi-Pekka; Parolin-Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George-K; Dabir, Tabib; Morrison, Patrick-J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel-E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag-E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Héctor; McCann, Emma; Joss, Shelagh; Blakes, Alexander-JM; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally-Ann; Martínez-Albaladejo, Inmaculada; Moore, Austen-Peter; Jones, Wendy-D; Becker, Esther-BE; Nemeth, Andrea-H
(Wiley, 2024-01)
BACKGROUND: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP(3) ) receptor type 1 (IP(3) R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital ...