A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

TitleA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Publication TypeJournal Article
AuthorsSchoch, K, Meng, L, Szelinger, S, Bearden, DR, Stray-Pedersen, A, Busk, OL, Stong, N, Liston, E, Cohn, RD, Scaglia, F, Rosenfeld, JA, Tarpinian, J, Skraban, CM, Deardorff, MA, Friedman, JN, Akdemir, ZCoban, Walley, N, Mikati, MA, Kranz, PG, Jasien, J, McConkie-Rosell, A, McDonald, M, Wechsler, SBurns, Freemark, M, Kansagra, S, Freedman, S, Bali, D, Millan, F, Bale, S, Nelson, SF, Lee, H, Dorrani, N, Goldstein, DB, Xiao, R, Yang, Y, Posey, JE, Martinez-Agosto, JA, Lupski, JR, Wangler, MF, Shashi, V
Corporate AuthorsUCLA Clinical Genomics Center, Undiagnosed Diseases Network
PubMed ID28132692
PubMed Central IDPMC5294886
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
U01 HG007672 / HG / NHGRI NIH HHS / United States
P50 HD055784 / HD / NICHD NIH HHS / United States
U54 NS093793 / NS / NINDS NIH HHS / United States