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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R. Horn S, et al. Among authors: konen o. Brain. 2019 Nov 1;142(11):3351-3359. doi: 10.1093/brain/awz264. Brain. 2019. PMID: 31504246 Free PMC article.
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Weisz-Hubshman M, et al. Among authors: konen o. Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19. Eur J Paediatr Neurol. 2019. PMID: 30853297
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ. Li L, et al. Among authors: konen o. J Clin Invest. 2020 Mar 2;130(3):1431-1445. doi: 10.1172/JCI131145. J Clin Invest. 2020. PMID: 31794431 Free PMC article.
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: konen o. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11. Mol Cell. 2012. PMID: 23063529 Free PMC article.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Basel-Vanagaite L, et al. Among authors: konen o. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200864 Free PMC article.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: konen o. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
Vertebral artery dissection and posterior stroke in a child.
Halevy A, Konen O, Straussberg R, Michowitz SD, Shuper A. Halevy A, et al. Among authors: konen o. J Child Neurol. 2008 May;23(5):568-71. doi: 10.1177/0883073807313038. Epub 2008 Feb 15. J Child Neurol. 2008. PMID: 18281617
87 results