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

BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with...

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Bibliografski detalji
Izdano u:BMC Med Genomics
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796507/
https://ncbi.nlm.nih.gov/pubmed/29390993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0320-7
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