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Sleep disturbances in SCN8A-related disorders.

作者信息

Furia Francesca, Johannesen Katrine M, Bonardi Claudia M, Previtali Roberto, Aledo-Serrano Angel, Mastrangelo Massimo, Favaro Jacopo, Masnada Silvia, di Micco Valentina, Proietti Jacopo, Veggiotti Pierangelo, Rubboli Guido, Cantalupo Gaetano, Olofsson Kern, Møller Rikke S, Gardella Elena

机构信息

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.

Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.

出版信息

Epilepsia Open. 2024 Dec;9(6):2186-2197. doi: 10.1002/epi4.13042. Epub 2024 Oct 3.

DOI:10.1002/epi4.13042
PMID:39361253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11633700/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/ed68c6c87314/EPI4-9-2186-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/bd476922e219/EPI4-9-2186-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/5f8b08c7e28a/EPI4-9-2186-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/ed68c6c87314/EPI4-9-2186-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/bd476922e219/EPI4-9-2186-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/5f8b08c7e28a/EPI4-9-2186-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ece/11633700/ed68c6c87314/EPI4-9-2186-g001.jpg

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Sleep Med. 2023 Jul;107:101-107. doi: 10.1016/j.sleep.2023.04.008. Epub 2023 Apr 20.
2
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.SCN8A 相关疾病的基因型-表型相关性揭示了预后和治疗意义。
Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321.
3
SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
SCN8A 癫痫、发育性脑病及相关疾病。
Pediatr Neurol. 2021 Sep;122:76-83. doi: 10.1016/j.pediatrneurol.2021.06.011. Epub 2021 Aug 3.
4
Sleep in Dravet syndrome: A parent-driven survey.德拉维特综合征患者的睡眠问题：一项家长主导的调查。
Seizure. 2021 Feb;85:102-110. doi: 10.1016/j.seizure.2020.12.021. Epub 2021 Jan 7.
5
Clinical aspects of a large group of adults with Angelman syndrome.一大群成年安格曼综合征患者的临床特征。
Am J Med Genet A. 2021 Jan;185(1):168-181. doi: 10.1002/ajmg.a.61940. Epub 2020 Oct 27.
6
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.SCN8A 相关疾病的表型和基因型谱、治疗选择和结果。
Epilepsia. 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319.
7
SCN8A encephalopathy: Mechanisms and models.SCN8A 脑病：机制与模型。
Epilepsia. 2019 Dec;60 Suppl 3(Suppl 3):S86-S91. doi: 10.1111/epi.14703.
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A multi-disciplinary clinic for SCN8A-related epilepsy.SCN8A 相关性癫痫的多学科临床诊疗中心。
Epilepsy Res. 2020 Jan;159:106261. doi: 10.1016/j.eplepsyres.2019.106261. Epub 2019 Dec 23.
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Estimation of the global prevalence and burden of obstructive sleep apnoea: a literature-based analysis.基于文献的分析估计全球阻塞性睡眠呼吸暂停的患病率和负担。
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Epilepsia. 2019 May;60(5):845-856. doi: 10.1111/epi.14727. Epub 2019 Apr 26.