Monogenetic epilepsies and how to approach them in 2022.
作者信息
Krey Ilona, Platzer Konrad, Lemke Johannes R
机构信息
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
出版信息
Med Genet. 2022 Sep 22;34(3):201-205. doi: 10.1515/medgen-2022-2143. eCollection 2022 Oct.
Abstract
摘要
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本文引用的文献
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Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448.
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Genetic testing for the epilepsies: A systematic review.癫痫的基因检测：一项系统综述。
Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10.
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Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.外显子组-first approach 以降低诊断成本和时间-111 例罕见神经发育障碍个体的回顾性分析。
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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.成人和老年人智力残疾和癫痫的遗传特征：150 例个体的系统遗传学研究。
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Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.儿童起病遗传性癫痫的发病率和表型：一项前瞻性基于人群的全国队列研究。
Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195.
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Meta-analysis and cost-effectiveness of second-line antiepileptic drugs for status epilepticus.癫痫持续状态二线抗癫痫药物的荟萃分析和成本效益。
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Global, regional, and national burden of epilepsy, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.全球、区域和国家癫痫负担，1990-2016 年：2016 年全球疾病负担研究的系统分析。
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The landscape of epilepsy-related GATOR1 variants.癫痫相关 GATOR1 变异体的全景。
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Front Neurol. 2018 Jul 6;9:515. doi: 10.3389/fneur.2018.00515. eCollection 2018.
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De novo variants in neurodevelopmental disorders with epilepsy.神经发育障碍伴癫痫的从头变异。
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