Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study,Epilepsia

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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study
Epilepsia ( IF 6.6 ) Pub Date : 2020-09-23 , DOI: 10.1111/epi.16701
Tommy Stödberg _{1,

2} , Torbjörn Tomson ₃ , Michela Barbaro _{4,

5} , Henrik Stranneheim _{4,

5,

6} , Britt-Marie Anderlid _{4,

7} , Sofia Carlsson ₈ , Per Åmark ₁ , Anna Wedell _{4,

5,

6}

Affiliation

Population‐based data on epilepsy syndromes and etiologies in early onset epilepsy are scarce. The use of next‐generation sequencing (NGS) has hitherto not been reported in this context. The aim of this study is to describe children with epilepsy onset before 2 years of age, and to explore to what degree whole exome and whole genome sequencing (WES/WGS) can help reveal a molecular genetic diagnosis.

中文翻译：

癫痫综合征、病因和二代测序在出生前 2 年癫痫发作中的应用：一项基于人群的研究

关于早发性癫痫的癫痫综合征和病因的基于人群的数据很少。迄今为止，尚未报告在这方面使用下一代测序（NGS）。本研究的目的是描述 2 岁前癫痫发作的儿童，并探讨全外显子组和全基因组测序 (WES/WGS) 在多大程度上有助于揭示分子遗传学诊断。

更新日期：2020-09-23

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