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Genome Sequencing After Exome Sequencing in Pediatric Epilepsy.

作者信息

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

机构信息

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

出版信息

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

DOI:10.1001/jamaneurol.2024.3582
PMID:39432277
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11494465/
Abstract
摘要

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引用本文的文献

1
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.儿童癫痫的临床全基因组测序：733例个体的遗传和表型谱
Epilepsia. 2025 Aug;66(8):2966-2979. doi: 10.1111/epi.18403. Epub 2025 Apr 4.

本文引用的文献

1
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.外显子组测序在不明原因的儿科起病癫痫中的诊断效用。
JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380.
2
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.与外显子组测序相比，基因组测序在发育性或癫痫性脑病患者中的当前获益。
Mol Genet Genomic Med. 2023 May;11(5):e2148. doi: 10.1002/mgg3.2148. Epub 2023 Feb 13.
3
Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.不明原因癫痫的基因检测与咨询：美国国家遗传咨询师协会基于证据的实践指南
J Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646. Epub 2022 Oct 24.
4
Genetic testing for the epilepsies: A systematic review.癫痫的基因检测：一项系统综述。
Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10.
5
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.在发育性和癫痫性脑病中，外显子组测序或基因panel 检测结果不明确后的全基因组测序的诊断率。
Neurology. 2021 Mar 30;96(13):e1770-e1782. doi: 10.1212/WNL.0000000000011655. Epub 2021 Feb 10.
6
Children's rare disease cohorts: an integrative research and clinical genomics initiative.儿童罕见病队列：一项综合研究与临床基因组学计划。
NPJ Genom Med. 2020 Jul 6;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020.