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Unlocking Genetic Clues: Exome Sequencing in Adult Epilepsy.

作者信息

Riva Antonella, Striano Pasquale

机构信息

IRCCS Istituto "Giannina Gaslini", Genoa, Italy; and.

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Italy.

出版信息

Neurol Genet. 2025 Apr 17;11(3):e200263. doi: 10.1212/NXG.0000000000200263. eCollection 2025 Jun.

DOI:10.1212/NXG.0000000000200263
PMID:40343076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12060787/
Abstract
摘要

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本文引用的文献

1
Holistic Exome-Based Genetic Testing in Adults With Epilepsy.成人癫痫患者基于全外显子组的整体基因检测。
Neurol Genet. 2025 Apr 17;11(3):e200260. doi: 10.1212/NXG.0000000000200260. eCollection 2025 Jun.
2
Multiplex Consanguineous Family Highlights as a Candidate Gene for Lissencephaly.多重近亲家族凸显其作为无脑回畸形候选基因的特征。
Neurol Genet. 2024 Jul 16;10(4):e200172. doi: 10.1212/NXG.0000000000200172. eCollection 2024 Aug.
3
Breathing coordinates cortico-hippocampal dynamics in mice during offline states.呼吸协调小鼠离线状态下皮质-海马动力学。
Nat Commun. 2022 Jan 24;13(1):467. doi: 10.1038/s41467-022-28090-5.
4
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.
5
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.比较成年癫痫伴智力障碍和儿童癫痫伴智力障碍患者的基因组诊断。
Eur J Hum Genet. 2020 Aug;28(8):1066-1077. doi: 10.1038/s41431-020-0610-3. Epub 2020 Apr 1.
6
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.遗传检测的进展和儿童及成人癫痫患者临床管理的优化。
Expert Rev Neurother. 2020 Mar;20(3):251-269. doi: 10.1080/14737175.2020.1713101. Epub 2020 Jan 27.
7
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.超罕见遗传性癫痫变异：对 17606 人的外显子组测序研究。
Am J Hum Genet. 2019 Aug 1;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18.
8
Recent advances in epilepsy genetics.癫痫遗传学的最新进展
Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10.