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Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.

作者信息

Peng Bing-Wei, Tian Yang, Chen Li, Duan Li-Fen, Wang Xiu-Ying, Zhu Hai-Xia, Shi Kai-Li, Zheng Ke-Lu, Shen Hui-Ling, Liang Wei, Li Xiao-Jing, Chen Wen-Xiong

机构信息

Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Epilepsy Treatment Center, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.

出版信息

Brain. 2022 May 24;145(4):e24-e27. doi: 10.1093/brain/awac038.

Abstract
摘要

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本文引用的文献

1
A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.
Ann Clin Transl Neurol. 2019 Aug;6(8):1445-1455. doi: 10.1002/acn3.50839. Epub 2019 Jul 23.
2
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia. 2019 May;60(5):845-856. doi: 10.1111/epi.14727. Epub 2019 Apr 26.
3
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.
4
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain. 2019 Feb 1;142(2):376-390. doi: 10.1093/brain/awy326.
5
Location: A surrogate for personalized treatment of sodium channelopathies.
Ann Neurol. 2018 Jul;84(1):1-9. doi: 10.1002/ana.25268.
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Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14.
7
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
Epilepsia. 2015 Mar;56(3):431-8. doi: 10.1111/epi.12925. Epub 2015 Feb 26.
9
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Neurobiol Dis. 2014 Sep;69:117-23. doi: 10.1016/j.nbd.2014.05.017. Epub 2014 May 27.

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