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Article

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

BMC medical genomics - 1 Feb 2018

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

Abstract excerpt

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 EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29390993
DOI: 10.1186/s12920-018-0320-7
PMCID: PMC5796507

Genes

BRAT1
CDKL5
CHD2
DNM1
GNAO1
KCNQ2
KCNT1
MECP2
PRICKLE2
SYNGAP1
WWOX
ZEB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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