Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study-Reference-Cited by-同舟云学术

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Published:2023-09 Issue:9 Volume:22 Page:812-825
ISSN:1474-4422
Container-title:The Lancet Neurology
language:en
Short-container-title:The Lancet Neurology

Author:

D'Gama Alissa M,Mulhern Sarah,Sheidley Beth R,Boodhoo Fadil,Buts Sarah,Chandler Natalie J,Cobb Joanna,Curtis Meredith,Higginbotham Edward J,Holland Jonathon,Khan Tayyaba,Koh Julia,Liang Nicole S Y,McRae Lyndsey,Nesbitt Sarah E,Oby Brandon T,Paternoster Ben,Patton Alistair,Rose Graham,Scotchman Elizabeth,Valentine Rozalia,Wiltrout Kimberly N,Hayeems Robin Z,Jain Puneet,Lunke Sebastian,Marshall Christian R,Rockowitz Shira,Sebire Neil J,Stark Zornitza,White Susan M,Chitty Lyn S,Cross J Helen,Scheffer Ingrid E,Chau Vann,Costain Gregory,Poduri Annapurna,Howell Katherine B,McTague Amy

Publisher

Elsevier BV

Subject

Neurology (clinical)

Reference33 articles.

1. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions;Zuberi;Epilepsia,2022

2. The genetic landscape of the epileptic encephalopathies of infancy and childhood;McTague;Lancet Neurol,2016

3. Genes4Epilepsy: an epilepsy gene resource;Oliver;Epilepsia,2023

4. Genetic testing for the epilepsies: a systematic review;Sheidley;Epilepsia,2022

5. Current practice in diagnostic genetic testing of the epilepsies;Krey;Epileptic Disord,2022

Cited by 6 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. Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting;The Lancet Neurology;2024-02

2. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19

3. Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories;Frontiers in Neurology;2023-12-06

4. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature;2023-10-13

5. Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelines;2023-09-14