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Article

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.

Epilepsy research - 1 Mar 2018

Ko Ara, Youn Song Ee, Kim Se Hee, Lee Joon Soo, Kim Sangwoo, Choi Jong Rak, Kim Heung Dong, Lee Seung-Tae, Kang Hoon-Chul

Abstract excerpt

OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS:...

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Source

Identifiers

PMID: 29455050
DOI: 10.1016/j.eplepsyres.2018.02.003

Genes

KCNQ2
STXBP1
CDKL5
KCNT1

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