Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

L. Benjamin Hills, Amira Masri, Kotaro Konno, Wataru Kakegawa, Anh Thu N. Lam, Elizabeth Lim-Melia, Nandini Chandy, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar, Ramzi Nasir, Joan M. Stoler, A. James Barkovich, Masahiko Watanabe, Michisuke Yuzaki, Ganeshwaran H. Mochida