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

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R.; Stray-Pedersen, Asbjorg; Busk, Oyvind L.; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D.; Scaglia, Fernando; Rosenfeld, Jill A.; Tarpinian, Jennifer; Skraban, Cara M.; Deardorff, Matthew A.; Friedman, Jeremy N.; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A.; Kranz, Peter G.; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F.; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B.; Xiao, Rui; Yang, Yaping; Posey, Jennifer E.; Martinez-Agosto, Julian A.; Lupski, James R.; Wangler, Michael F.; Shashi, Vandana; Grody, Wayne W.; Strom, Samuel P.; Vilain, Eric; Deignan, Joshua; Quintero-Rivera, Fabiola; Kantarci, Sibel; Mullegama, Sureni; Kang, Sung-Hae; Alejandro, Mercedes E.; Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Graham, Brett H.; Hanchard, Neil A.; Jain, Mahim; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Mashid, Azamian S.; Moretti, Paolo M.; Nicholas, Sarah K.; Orange, Jordan S.; Potocki, Lorraine; Scott, Daryl A.; Tran, Alyssa A.; Bellen, Hugo J.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Gropman, Andrea L.; Jiang, Yong-Hui; Pena, Loren D. M.; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Walley, Nicole M.; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walsh, Chris A.; Esteves, Cecilia; Holm, Ingrid A.; Kohane, Isaac S.; Mazur, Paul; McCray, Alexa T.; Might, Matthew; Ramoni, Rachel B.; Splinter, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Dan C.; Handley, Lori H.; Jacob, Howard J.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; Newberry, J. Scott; Schroeder, Molly C.; Strong, Kimberly A.; Worthey, Elizabeth A.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Loomis, Carson R.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Wise, Anastasia L.; Soldatos, Ariane G.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Dries, Annika M.; Fisher, Paul G.; Kohler, Jennefer N.; Waggott, Daryl M.; Wheeler, Matt T.; Zornio, Patricia A.; Allard, Patrick; Barseghyan, Hayk; Dell’Angelica, Esteban C.; Dipple, Katrina M.; Herzog, Matthew R.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Sinsheimer, Janet S.; Adams, Christopher J.; Burke, Elizabeth A.; Chao, Katherine R.; Davids, Mariska; Draper, David D.; Estwick, Tyra; Frisby, Trevor S.; Frost, Kate; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Gordon, Mary “Gracie” G; Groden, Catherine A.; Hackbarth, Mary E.; Hardee, Isabel; Johnston, Jean M.; Koehler, Alanna E.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Levy, Denise J.; Liebendorder, Adam P.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; McCarty, Alexandra J.; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sadozai, Sarah; Schaffer, Katherine E.; Sharma, Prashant; Thomas, Sara P.; Tolman, Nathanial J.; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Warburton, Mike; Weech, Alec A.; Yu, Guoyun; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Lee, Paul R.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Hamid, Rizwan; Newman, John H.; Phillips, John A.; Robertson, Amy K.; Cogan, Joy D.

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Cell Press, American Journal of Human Genetics, 2(100), p. 343-351, 2017

DOI: 10.1016/j.ajhg.2016.12.013

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

Journal article published in 2017 by Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen

, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman and other authors.

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