Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH.
Hills LB, et al. Among authors: kakegawa w.
Neurology. 2013 Oct 15;81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3. Epub 2013 Sep 27.
Neurology. 2013.
PMID: 24078737
Free PMC article.