Cargando…
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 34...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646089/ https://www.ncbi.nlm.nih.gov/pubmed/26068938 http://dx.doi.org/10.1002/ana.24457 |
| _version_ | 1782400913268277248 |
|---|---|
| author | Allen, Andrew S. Berkovic, Samuel F. Coe, Bradley P. Cook, Joseph Cossette, Patrick Delanty, Norman Dlugos, Dennis Eichler, Evan E. Epstein, Michael P. Glauser, Tracy Goldstein, David B. Heinzen, Erin L. Johnson, Michael R. Krumm, Nik Kuzniecky, Ruben Lowenstein, Daniel H. Marson, Anthony G. Mefford, Heather C. Nelson, Ben Esmaeeli Nieh, Sahar O'Brien, Terence J. Ottman, Ruth Petrou, Stephen Petrovski, Slavé Poduri, Annapurna Raja, Archana Ruzzo, Elizabeth K. Scheffer, Ingrid E. Sherr, Elliott Abou‐Khalil, Bassel Alldredge, Brian K. Andermann, Eva Andermann, Frederick Amron, Dina Bautista, Jocelyn F. Berkovic, Samuel F. Boro, Alex Cascino, Gregory Consalvo, Damian Crumrine, Patricia Devinsky, Orrin Dlugos, Dennis Epstein, Michael P. Fiol, Miguel Fountain, Nathan B. French, Jacqueline Friedman, Daniel Geller, Eric B. Glauser, Tracy Glynn, Simon Haut, Sheryl R. Hayward, Jean Helmers, Sandra L. Joshi, Sucheta Kanner, Andres Kirsch, Heidi E. Knowlton, Robert C. Kossoff, Eric H. Kuperman, Rachel Kuzniecky, Ruben Lowenstein, Daniel H. McGuire, Shannon M. Motika, Paul V. Novotny, Edward J. Ottman, Ruth Paolicchi, Juliann M. Parent, Jack Park, Kristen Poduri, Annapurna Scheffer, Ingrid E. Shellhaas, Renée A. Sherr, Elliott Shih, Jerry J. Singh, Rani Sirven, Joseph Smith, Michael C. Sullivan, Joe Thio, Liu Lin Venkat, Anu Vining, Eileen P.G. Von Allmen, Gretchen K. Weisenberg, Judith L. Widdess‐Walsh, Peter Winawer, Melodie R. |
| author_facet | Allen, Andrew S. Berkovic, Samuel F. Coe, Bradley P. Cook, Joseph Cossette, Patrick Delanty, Norman Dlugos, Dennis Eichler, Evan E. Epstein, Michael P. Glauser, Tracy Goldstein, David B. Heinzen, Erin L. Johnson, Michael R. Krumm, Nik Kuzniecky, Ruben Lowenstein, Daniel H. Marson, Anthony G. Mefford, Heather C. Nelson, Ben Esmaeeli Nieh, Sahar O'Brien, Terence J. Ottman, Ruth Petrou, Stephen Petrovski, Slavé Poduri, Annapurna Raja, Archana Ruzzo, Elizabeth K. Scheffer, Ingrid E. Sherr, Elliott Abou‐Khalil, Bassel Alldredge, Brian K. Andermann, Eva Andermann, Frederick Amron, Dina Bautista, Jocelyn F. Berkovic, Samuel F. Boro, Alex Cascino, Gregory Consalvo, Damian Crumrine, Patricia Devinsky, Orrin Dlugos, Dennis Epstein, Michael P. Fiol, Miguel Fountain, Nathan B. French, Jacqueline Friedman, Daniel Geller, Eric B. Glauser, Tracy Glynn, Simon Haut, Sheryl R. Hayward, Jean Helmers, Sandra L. Joshi, Sucheta Kanner, Andres Kirsch, Heidi E. Knowlton, Robert C. Kossoff, Eric H. Kuperman, Rachel Kuzniecky, Ruben Lowenstein, Daniel H. McGuire, Shannon M. Motika, Paul V. Novotny, Edward J. Ottman, Ruth Paolicchi, Juliann M. Parent, Jack Park, Kristen Poduri, Annapurna Scheffer, Ingrid E. Shellhaas, Renée A. Sherr, Elliott Shih, Jerry J. Singh, Rani Sirven, Joseph Smith, Michael C. Sullivan, Joe Thio, Liu Lin Venkat, Anu Vining, Eileen P.G. Von Allmen, Gretchen K. Weisenberg, Judith L. Widdess‐Walsh, Peter Winawer, Melodie R. |
| collection | PubMed |
| description | Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome‐predicted CNVs by array‐based methods is still required due to false‐positive rates of prediction algorithms. Our exome‐based results are consistent with recent array‐based studies in similar cohorts and highlight novel candidate genes for IS and LGS. Ann Neurol 2015;78:323–328 |
| format | Online Article Text |
| id | pubmed-4646089 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-46460892015-11-16 Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy Allen, Andrew S. Berkovic, Samuel F. Coe, Bradley P. Cook, Joseph Cossette, Patrick Delanty, Norman Dlugos, Dennis Eichler, Evan E. Epstein, Michael P. Glauser, Tracy Goldstein, David B. Heinzen, Erin L. Johnson, Michael R. Krumm, Nik Kuzniecky, Ruben Lowenstein, Daniel H. Marson, Anthony G. Mefford, Heather C. Nelson, Ben Esmaeeli Nieh, Sahar O'Brien, Terence J. Ottman, Ruth Petrou, Stephen Petrovski, Slavé Poduri, Annapurna Raja, Archana Ruzzo, Elizabeth K. Scheffer, Ingrid E. Sherr, Elliott Abou‐Khalil, Bassel Alldredge, Brian K. Andermann, Eva Andermann, Frederick Amron, Dina Bautista, Jocelyn F. Berkovic, Samuel F. Boro, Alex Cascino, Gregory Consalvo, Damian Crumrine, Patricia Devinsky, Orrin Dlugos, Dennis Epstein, Michael P. Fiol, Miguel Fountain, Nathan B. French, Jacqueline Friedman, Daniel Geller, Eric B. Glauser, Tracy Glynn, Simon Haut, Sheryl R. Hayward, Jean Helmers, Sandra L. Joshi, Sucheta Kanner, Andres Kirsch, Heidi E. Knowlton, Robert C. Kossoff, Eric H. Kuperman, Rachel Kuzniecky, Ruben Lowenstein, Daniel H. McGuire, Shannon M. Motika, Paul V. Novotny, Edward J. Ottman, Ruth Paolicchi, Juliann M. Parent, Jack Park, Kristen Poduri, Annapurna Scheffer, Ingrid E. Shellhaas, Renée A. Sherr, Elliott Shih, Jerry J. Singh, Rani Sirven, Joseph Smith, Michael C. Sullivan, Joe Thio, Liu Lin Venkat, Anu Vining, Eileen P.G. Von Allmen, Gretchen K. Weisenberg, Judith L. Widdess‐Walsh, Peter Winawer, Melodie R. Ann Neurol Brief Communications Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome‐predicted CNVs by array‐based methods is still required due to false‐positive rates of prediction algorithms. Our exome‐based results are consistent with recent array‐based studies in similar cohorts and highlight novel candidate genes for IS and LGS. Ann Neurol 2015;78:323–328 John Wiley and Sons Inc. 2015-07-01 2015-08 /pmc/articles/PMC4646089/ /pubmed/26068938 http://dx.doi.org/10.1002/ana.24457 Text en © 2015 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
| spellingShingle | Brief Communications Allen, Andrew S. Berkovic, Samuel F. Coe, Bradley P. Cook, Joseph Cossette, Patrick Delanty, Norman Dlugos, Dennis Eichler, Evan E. Epstein, Michael P. Glauser, Tracy Goldstein, David B. Heinzen, Erin L. Johnson, Michael R. Krumm, Nik Kuzniecky, Ruben Lowenstein, Daniel H. Marson, Anthony G. Mefford, Heather C. Nelson, Ben Esmaeeli Nieh, Sahar O'Brien, Terence J. Ottman, Ruth Petrou, Stephen Petrovski, Slavé Poduri, Annapurna Raja, Archana Ruzzo, Elizabeth K. Scheffer, Ingrid E. Sherr, Elliott Abou‐Khalil, Bassel Alldredge, Brian K. Andermann, Eva Andermann, Frederick Amron, Dina Bautista, Jocelyn F. Berkovic, Samuel F. Boro, Alex Cascino, Gregory Consalvo, Damian Crumrine, Patricia Devinsky, Orrin Dlugos, Dennis Epstein, Michael P. Fiol, Miguel Fountain, Nathan B. French, Jacqueline Friedman, Daniel Geller, Eric B. Glauser, Tracy Glynn, Simon Haut, Sheryl R. Hayward, Jean Helmers, Sandra L. Joshi, Sucheta Kanner, Andres Kirsch, Heidi E. Knowlton, Robert C. Kossoff, Eric H. Kuperman, Rachel Kuzniecky, Ruben Lowenstein, Daniel H. McGuire, Shannon M. Motika, Paul V. Novotny, Edward J. Ottman, Ruth Paolicchi, Juliann M. Parent, Jack Park, Kristen Poduri, Annapurna Scheffer, Ingrid E. Shellhaas, Renée A. Sherr, Elliott Shih, Jerry J. Singh, Rani Sirven, Joseph Smith, Michael C. Sullivan, Joe Thio, Liu Lin Venkat, Anu Vining, Eileen P.G. Von Allmen, Gretchen K. Weisenberg, Judith L. Widdess‐Walsh, Peter Winawer, Melodie R. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title | Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title_full | Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title_fullStr | Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title_full_unstemmed | Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title_short | Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| title_sort | copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| topic | Brief Communications |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646089/ https://www.ncbi.nlm.nih.gov/pubmed/26068938 http://dx.doi.org/10.1002/ana.24457 |
| work_keys_str_mv | AT copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT allenandrews copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT berkovicsamuelf copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT coebradleyp copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT cookjoseph copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT cossettepatrick copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT delantynorman copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT dlugosdennis copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT eichlerevane copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT epsteinmichaelp copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT glausertracy copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT goldsteindavidb copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT heinzenerinl copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT johnsonmichaelr copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT krummnik copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kuznieckyruben copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT lowensteindanielh copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT marsonanthonyg copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT meffordheatherc copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT nelsonben copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT esmaeeliniehsahar copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT obrienterencej copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT ottmanruth copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT petroustephen copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT petrovskislave copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT poduriannapurna copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT rajaarchana copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT ruzzoelizabethk copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT schefferingride copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT sherrelliott copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT aboukhalilbassel copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT alldredgebriank copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT andermanneva copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT andermannfrederick copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT amrondina copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT bautistajocelynf copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT berkovicsamuelf copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT boroalex copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT cascinogregory copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT consalvodamian copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT crumrinepatricia copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT devinskyorrin copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT dlugosdennis copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT epsteinmichaelp copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT fiolmiguel copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT fountainnathanb copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT frenchjacqueline copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT friedmandaniel copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT gellerericb copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT glausertracy copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT glynnsimon copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT hautsherylr copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT haywardjean copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT helmerssandral copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT joshisucheta copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kannerandres copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kirschheidie copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT knowltonrobertc copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kossofferich copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kupermanrachel copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT kuznieckyruben copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT lowensteindanielh copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT mcguireshannonm copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT motikapaulv copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT novotnyedwardj copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT ottmanruth copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT paolicchijuliannm copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT parentjack copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT parkkristen copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT poduriannapurna copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT schefferingride copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT shellhaasreneea copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT sherrelliott copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT shihjerryj copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT singhrani copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT sirvenjoseph copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT smithmichaelc copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT sullivanjoe copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT thioliulin copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT venkatanu copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT viningeileenpg copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT vonallmengretchenk copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT weisenbergjudithl copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT widdesswalshpeter copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy AT winawermelodier copynumbervariantanalysisfromexomedatain349patientswithepilepticencephalopathy |