Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature-Reference-Cited by-同舟云学术

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature

Published:2020-08-03 Issue:6 Volume:43 Page:1321-1332
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Johnstone Devon L.¹^ORCID,Nguyen Thi Tuyet Mai²^ORCID,Zambonin Jessica¹³,Kernohan Kristin D.¹⁴,St‐Denis Anik²,Baratang Nissan V.²,Hartley Taila¹,Geraghty Michael T.⁴,Richer Julie³,Majewski Jacek⁵⁶,Bareke Eric⁵⁶,Guerin Andrea⁷^ORCID,Pendziwiat Manuela⁸,Pena Loren D. M.⁹¹⁰,Braakman Hilde M. H.¹¹¹²^ORCID,Gripp Karen W.¹³,Edmondson Andrew C.¹⁴,He Miao¹⁵,Spillmann Rebecca C.¹⁶,Eklund Erik A.¹⁷,Bayat Allan¹⁸¹⁹,McMillan Hugh J.²⁰^ORCID,Boycott Kym M.¹³^ORCID,Campeau Philippe M.²²¹^ORCID,Acosta Maria T.,Adam Margaret,Adams David R.,Agrawal Pankaj B.,Alejandro Mercedes E.,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,Barham Jordan,Barbouth Deborah,Batzli Gabriel F.,Bayrak‐Toydemir Pinar,Beck Anita,Beggs Alan H.,Bejerano Gill,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,Boyd Brenna,Briere Lauren C.,Brokamp Elly,Brown Gabrielle,Burke Elizabeth A.,Burrage Lindsay C.,Butte Manish J.,Byers Peter,Byrd William E.,Carey John,Carrasquillo Olveen,Chang Ta Chen Peter,Chanprasert Sirisak,Chao Hsiao‐Tuan,Chen Mei‐Jan,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,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.,McGee Elisabeth,Mefford Heather,Merritt J. Lawrence,Might Matthew,Mirzaa Ghayda,Morava‐Kozicz Eva,Moretti Paolo M.,Morimoto Marie,Mulvihill John J.,Murdock David R.,Nakano‐Okuno Mariko,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 GS.,Papp Jeanette C.,Parker Neil H.,Phillips John A.,Posey Jennifer E.,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.,Rosenwasser Natalie,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 Edward C.,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,Wenger Tara,Perry Katherine Wesseling,Westerfield Monte,Wheeler Matthew T.,Wise Anastasia L.,Wolfe Lynne A.,Woods Jeremy D.,Yamamoto Shinya,Yang John,Yu Guoyun,Zastrow Diane B.,Zhao Chunli,Zuchner Stephan, ,

Affiliation:

1. Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada

2. Research Center, CHU Sainte Justine University of Montreal Montreal Quebec Canada

3. Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

4. Division of Metabolics and Newborn Screening, Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

5. Department of Human Genetics McGill University Montreal Quebec Canada

6. McGill University and Genome Quebec Innovation Centre Montreal Quebec Canada

7. Division of Medical Genetics, Department of Pediatrics Queen's University Kingston Ontario Canada

8. Department of Neuropediatrics Christian‐Albrechts‐University of Kiel Kiel Germany

9. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

10. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

11. Department of Neurology Academic Center for Epileptology Kempenhaeghe & Maastricht University Medical Center Heeze The Netherlands

12. Department of Pediatric Neurology, Amalia Children's Hospital Radboud University Medical Center & Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen The Netherlands

13. Division of Medical Genetics A. I. DuPont Hospital for Children/Nemours Wilmington Delaware USA

14. Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

15. Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

16. Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA

17. Department of Pediatric Neurology, Region Skåne and Clinical Sciences Lund University Skåne University Hospital (SUS) Lund Sweden

18. Department of Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark

19. Institute for Regional Health Services Research University of Southern Denmark Odense Denmark

20. Division of Neurology, Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

21. Department of Pediatrics, Sainte‐Justine Hospital University of Montreal Montreal Quebec Canada

Funder

Canadian Institutes of Health Research

National Institutes of Health

Office of Strategic Coordination

Ontario Genomics Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12278

Reference35 articles.

1. Biosynthesis and deficiencies of glycosylphosphatidylinositol

2. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

3. Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly

4. Developmental abnormalities of glycosylphosphatidylinositol‐anchor‐deficient embryos revealed by Cre/loxP system;Nozaki M;Lab Invest,1999

5. GDE2 Promotes Neurogenesis by Glycosylphosphatidylinositol-Anchor Cleavage of RECK

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuronal RBM5 modulates cell signaling responses to traumatic and hypoxic-ischemic injury in a sex-dependent manner;Cell Death Discovery;2023-10-17

2. Perturbation of the insomniaWDR90GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene,PIG-Q;2023-08-18

3. GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?;Clinical Genetics;2023-07-25

4. Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability;Gene;2023-07

5. Expanding the phenotype of PIGP deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome;Clinical Genetics;2023-05