| Title: |
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy |
| Authors: |
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; Nieh, Sahar Esmaeeli; 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; Boro, Alex; Cascino, Gregory; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Fiol, Miguel; Fountain, Nathan B; French, Jacqueline; Friedman, Daniel; Geller, Eric B; 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; McGuire, Shannon M; Motika, Paul V; Novotny, Edward J; Paolicchi, Juliann M; Parent, Jack; Park, Kristen; Shellhaas, Renée A; Shih, Jerry J; Singh, Rani; Sirven, Joseph; Smith, Michael C; Sullivan, Joe; Thio, Liu Lin; Venkat, Anu; Vining, Eileen PG; Von Allmen, Gretchen K; Weisenberg, Judith L; Widdess‐Walsh, Peter; Winawer, Melodie R |
| Source: |
Annals of Neurology, vol 78, iss 2 |
| Publisher Information: |
eScholarship, University of California |
| Publication Year: |
2015 |
| Collection: |
University of California: eScholarship |
| Subject Terms: |
32 Biomedical and Clinical Sciences (for-2020); 3209 Neurosciences (for-2020); 3202 Clinical Sciences (for-2020); Neurodegenerative (rcdc); Clinical Research (rcdc); Brain Disorders (rcdc); Genetics (rcdc); Pediatric (rcdc); Biotechnology (rcdc); Epilepsy (rcdc); Human Genome (rcdc); Neurosciences (rcdc); 4.2 Evaluation of markers and technologies (hrcs-rac); Adult (mesh); Child; Preschool (mesh); Cohort Studies (mesh); DNA Copy Number Variations (mesh); Exome (mesh); Female (mesh); Humans (mesh); Infant (mesh); Infant; Newborn (mesh); Lennox Gastaut Syndrome (mesh); Male (mesh); Parents (mesh); Sequence Analysis; DNA (mesh); Spasms |
| Subject Geographic: |
323 - 328 |
| 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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
qt3438h024; https://escholarship.org/uc/item/3438h024; https://escholarship.org/content/qt3438h024/qt3438h024.pdf |
| DOI: |
10.1002/ana.24457 |
| Availability: |
https://escholarship.org/uc/item/3438h024; https://escholarship.org/content/qt3438h024/qt3438h024.pdf; https://doi.org/10.1002/ana.24457 |
| Rights: |
CC-BY-NC |
| Accession Number: |
edsbas.701AAFC0 |
| Database: |
BASE |