Genome Sequencing After Exome Sequencing in Pediatric Epilepsy

Alissa M D'Gama; Wanqing Shao; Lacey Smith; Hyun Yong Koh; Maya Davis; Julia Koh; Brandon T Oby; Cesar I Urzua; Beth Rosen Sheidley; Shira Rockowitz; Annapurna Poduri

doi:10.1001/jamaneurol.2024.3582

Genome Sequencing After Exome Sequencing in Pediatric Epilepsy

JAMA Neurol. 2024 Dec 1;81(12):1316-1318. doi: 10.1001/jamaneurol.2024.3582.

Authors

Alissa M D'Gama^{1

2

3

4}, Wanqing Shao⁴, Lacey Smith¹, Hyun Yong Koh⁵, Maya Davis¹, Julia Koh¹, Brandon T Oby¹, Cesar I Urzua¹, Beth Rosen Sheidley¹, Shira Rockowitz^{4

6

7}, Annapurna Poduri^{1

4

8}

Affiliations

¹ Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
² Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
³ Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
⁴ Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, Massachusetts.
⁵ Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
⁶ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
⁷ The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
⁸ Department of Neurology, Harvard Medical School, Boston, Massachusetts.

PMID: 39432277
PMCID: PMC11494465 (available on 2025-10-21)
DOI: 10.1001/jamaneurol.2024.3582

No abstract available

Plain language summary

This cohort study examined the yield and use of genome sequencing after nondiagnostic exome sequencing for pediatric patients with unexplained epilepsy between August 2018 and May 2023.