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
1
Current practice in diagnostic genetic testing of the epilepsies.
Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.1448.
2
Genetic testing for the epilepsies: A systematic review.
Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10.
3
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Eur J Hum Genet. 2022 Jan;30(1):117-125. doi: 10.1038/s41431-021-00981-z. Epub 2021 Oct 25.
4
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Genet Med. 2021 Aug;23(8):1492-1497. doi: 10.1038/s41436-021-01153-6. Epub 2021 Apr 28.
5
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195.
6
Meta-analysis and cost-effectiveness of second-line antiepileptic drugs for status epilepticus.
Neurology. 2019 May 14;92(20):e2339-e2348. doi: 10.1212/WNL.0000000000007503.
7
Global, regional, and national burden of epilepsy, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.
Lancet Neurol. 2019 Apr;18(4):357-375. doi: 10.1016/S1474-4422(18)30454-X. Epub 2019 Feb 14.
8
The landscape of epilepsy-related GATOR1 variants.
Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10.
9
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Front Neurol. 2018 Jul 6;9:515. doi: 10.3389/fneur.2018.00515. eCollection 2018.
10
De novo variants in neurodevelopmental disorders with epilepsy.
Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
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