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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Pubblicato in:BMC Med Genomics
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
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Research Article
Accesso online: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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