Tiered analysis of whole-exome sequencing for epilepsy diagnosis-Reference-Cited by-同舟云学术

Tiered analysis of whole-exome sequencing for epilepsy diagnosis

Published:2020-03-07 Issue:3 Volume:295 Page:751-763
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Dunn Paul J.,Maher Bridget H.,Albury Cassie L.,Stuart Shani,Sutherland Heidi G.,Maksemous Neven,Benton Miles C.,Smith Robert A.,Haupt Larisa M.,Griffiths Lyn R.^ORCID

Funder

NCR

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-020-01657-x.pdf

Reference77 articles.

1. Akiyama M, Kobayashi K, Ohtsuka Y (2012) Dravet syndrome: a genetic epileptic disorder. Acta Med Okayama 66:369–376

2. Alexander A, Maroso M, Soltesz I (2016) Organization and control of epileptic circuits in temporal lobe epilepsy. Prog Brain Res 226:127–154

3. Annegers JF, Hauser WA, Anderson VE, Kurland LT (1982) The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 32:174–179

4. Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T (2016) GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet 53:503–510

5. Benton MC, Smith RA, Haupt LM, Sutherland HG, Dunn PJ, Albury CL et al (2019) Variant call format-diagnostic annotation and reporting tool: a customizable analysis pipeline for identification of clinically relevant genetic variants in next-generation sequencing data. J Mol Diagn 21(6):951–960

Cited by 16 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. Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model;Clinical Genetics;2024-07-29

2. Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy;Epilepsy Research;2024-03

3. Whole-exome and whole-genome sequencing in the molecular diagnostic laboratory;Diagnostic Molecular Pathology;2024

4. Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review;Epilepsia Open;2023-11-28

5. A novel GABRG2 variant in Sunflower syndrome: A case report and video EEG monitoring;Epileptic Disorders;2023-09-15