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

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

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

机译：患有发育和癫痫发育性脑病儿童的靶向基因组和基因型 - 表型相关性

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摘要

Objective: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype phenotype correlations.

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来源
《Epilepsy research》 |2018年第2018期|共8页
作者
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;
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作者单位

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

Yonsei Univ Severance Biomed Sci Inst Coll Med Yonsei Ro 50-1 Seoul 03722 South Korea;

Yonsei Univ Severance Hosp Dept Lab Med Coll Med Yonsei Ro 50-1 Seoul 03722 South Korea;

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

Yonsei Univ Severance Hosp Dept Lab Med Coll Med Yonsei Ro 50-1 Seoul 03722 South Korea;

Yonsei Univ Epilepsy Res Inst Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词
Developmental and epileptic encephalopathy; Next-generation sequencing; Gene panel;

机译：发育和癫痫脑病;下一代测序;基因面板;

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12. Acute Encephalopathy Syndrome in Children [R] . Singh, B. 1970

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

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