Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing-Reference-Cited by-同舟云学术

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

Published:2018-02-01 Issue:1 Volume:11 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Rim John Hoon,Kim Se Hee,Hwang In Sik,Kwon Soon Sung,Kim Jieun,Kim Hyun Woo,Cho Min Jung,Ko Ara,Youn Song Ee,Kim Jihun,Lee Young Mock,Chung Hee Jung,Lee Joon Soo,Kim Heung Dong,Choi Jong Rak,Lee Seung-Tae,Kang Hoon-Chul

Funder

Korea Health Industry Development Institute

National Research Foundation of Korea

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12920-018-0320-7.pdf

Reference24 articles.

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2. Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016;53(5):310–7.

3. Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012;53(8):1387–98.

4. Wang J, Gotway G, Pascual JM, Park JY. Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol. 2014;71(5):650–1.

5. Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, et al. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. Eur J Hum Genet. 2015;23(3):354–62.

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