De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Author:

Mao Dongxue,Reuter Chloe M.,Ruzhnikov Maura R.Z.,Beck Anita E.,Farrow Emily G.,Emrick Lisa T.,Rosenfeld Jill A.,Mackenzie Katherine M.,Robak Laurie,Wheeler Matthew T.,Burrage Lindsay C.,Jain Mahim,Liu Pengfei,Calame Daniel,Küry Sébastien,Sillesen Martin,Schmitz-Abe Klaus,Tonduti Davide,Spaccini Luigina,Iascone Maria,Genetti Casie A.,Koenig Mary K.,Graf Madeline,Tran Alyssa,Alejandro Mercedes,Lee Brendan H.,Thiffault Isabelle,Agrawal Pankaj B.,Bernstein Jonathan A.,Bellen Hugo J.,Chao Hsiao-Tuan,Acosta Maria T.,Adam Margaret,Adams David R.,Agrawal Pankaj B.,Alejandro Mercedes E.,Allard Patrick,Alvey Justin,Amendola Laura,Andrews Ashley,Ashley Euan A.,Azamian Mahshid S.,Bacino Carlos A.,Bademci Guney,Baker Eva,Balasubramanyam Ashok,Baldridge Dustin,Bale Jim,Bamshad Michael,Barbouth Deborah,Batzli Gabriel F.,Bayrak-Toydemir Pinar,Beck Anita,Beggs Alan H.,Bejerano Gill,Bellen Hugo J.,Bennet Jimmy,Berg-Rood Beverly,Bernier Raphael,Bernstein Jonathan A.,Berry Gerard T.,Bican Anna,Bivona Stephanie,Blue Elizabeth,Bohnsack John,Bonnenmann Carsten,Bonner Devon,Botto Lorenzo,Briere Lauren C.,Brokamp Elly,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Carey John,Carrasquillo Olveen,Chang Ta Chen Peter,Chanprasert Sirisak,Chao Hsiao-Tuan,Clark Gary D.,Coakley Terra R.,Cobban Laurel A.,Cogan Joy D.,Cole F. Sessions,Colley Heather A.,Cooper Cynthia M.,Cope Heidi,Craigen William J.,Cunningham Michael,D’Souza Precilla,Dai Hongzheng,Dasari Surendra,Davids Mariska,Dayal Jyoti G.,Dell’Angelica Esteban C.,Dhar Shweta U.,Dipple Katrina,Doherty Daniel,Dorrani Naghmeh,Douine Emilie D.,Draper David D.,Duncan Laura,Earl Dawn,Eckstein David J.,Emrick Lisa T.,Eng Christine M.,Esteves Cecilia,Estwick Tyra,Fernandez Liliana,Ferreira Carlos,Fieg Elizabeth L.,Fisher Paul G.,Fogel Brent L.,Forghani Irman,Fresard Laure,Gahl William A.,Glass Ian,Godfrey Rena A.,Golden-Grant Katie,Goldman Alica M.,Goldstein David B.,Grajewski Alana,Groden Catherine A.,Gropman Andrea L.,Hahn Sihoun,Hamid Rizwan,Hanchard Neil A.,Hayes Nichole,High Frances,Hing Anne,Hisama Fuki M.,Holm Ingrid A.,Hom Jason,Horike-Pyne Martha,Huang Alden,Huang Yong,Isasi Rosario,Jamal Fariha,Jarvik Gail P.,Jarvik Jeffrey,Jayadev Suman,Jiang Yong-hui,Johnston Jean M.,Karaviti Lefkothea,Kelley Emily G.,Kiley Dana,Kohane Isaac S.,Kohler Jennefer N.,Krakow Deborah,Krasnewich Donna M.,Korrick Susan,Koziura Mary,Krier Joel B.,Lalani Seema R.,Lam Byron,Lam Christina,Lanpher Brendan C.,Lanza Ian R.,Lau C. Christopher,LeBlanc Kimberly,Lee Brendan H.,Lee Hane,Levitt Roy,Lewis Richard A.,Lincoln Sharyn A.,Liu Pengfei,Liu Xue Zhong,Longo Nicola,Loo Sandra K.,Loscalzo Joseph,Maas Richard L.,Macnamara Ellen F.,MacRae Calum A.,Maduro Valerie V.,Majcherska Marta M.,Malicdan May Christine V.,Mamounas Laura A.,Manolio Teri A.,Mao Rong,Maravilla Kenneth,Markello Thomas C.,Marom Ronit,Marth Gabor,Martin Beth A.,Martin Martin G.,Martínez-Agosto Julian A.,Marwaha Shruti,McCauley Jacob,McConkie-Rosell Allyn,McCormack Colleen E.,McCray Alexa T.,Mefford Heather,Merritt J. Lawrence,Might Matthew,Mirzaa Ghayda,Morava-Kozicz Eva,Moretti Paolo M.,Morimoto Marie,Mulvihill John J.,Murdock David R.,Nath Avi,Nelson Stan F.,Newman John H.,Nicholas Sarah K.,Nickerson Deborah,Novacic Donna,Oglesbee Devin,Orengo James P.,Pace Laura,Pak Stephen,Pallais J. Carl,Palmer Christina G.S.,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,Postlethwait John H.,Potocki Lorraine,Pusey Barbara N.,Quinlan Aaron,Raskind Wendy,Raja Archana N.,Renteria Genecee,Reuter Chloe M.,Rives Lynette,Robertson Amy K.,Rodan Lance H.,Rosenfeld Jill A.,Rowley Robb K.,Ruzhnikov Maura,Sacco Ralph,Sampson Jacinda B.,Samson Susan L.,Saporta Mario,Scott C. Ron,Schaechter Judy,Schedl Timothy,Schoch Kelly,Scott Daryl A.,Shakachite Lisa,Sharma Prashant,Shashi Vandana,Shin Jimann,Signer Rebecca,Sillari Catherine H.,Silverman Edwin K.,Sinsheimer Janet S.,Sisco Kathy,Smith Kevin S.,Solnica-Krezel Lilianna,Spillmann Rebecca C.,Stoler Joan M.,Stong Nicholas,Sullivan Jennifer A.,Sun Angela,Sutton Shirley,Sweetser David A.,Sybert Virginia,Tabor Holly K.,Tamburro Cecelia P.,Tan Queenie K.-G.,Tekin Mustafa,Telischi Fred,Thorson Willa,Tifft Cynthia J.,Toro Camilo,Tran Alyssa A.,Urv Tiina K.,Velinder Matt,Viskochil Dave,Vogel Tiphanie P.,Wahl Colleen E.,Wallace Stephanie,Walley Nicole M.,Walsh Chris A.,Walker Melissa,Wambach Jennifer,Wan Jijun,Wang Lee-kai,Wangler Michael F.,Ward Patricia A.,Wegner Daniel,Wener Mark,Westerfield Monte,Wheeler Matthew T.,Wise Anastasia L.,Wolfe Lynne A.,Woods Jeremy D.,Yamamoto Shinya,Yang John,Yoon Amanda J.,Yu Guoyun,Zastrow Diane B.,Zhao Chunli,Zuchner Stephan

Funder

NIH Common Fund

NIH

National Human Genome Research Institute

Common Fund, Office of the Director, NIH

American Academy of Neurology

Child Neurology Foundation

Burroughs Wellcome Fund

McNair Medical Institute at The Robert and Janice McNair Foundation

National Eye Institute

National Heart, Lung, and Blood Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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