单卵双胎 SCN8A 基因突变致癫痫性脑病二例_Journal of Epilepsy

Authors：

孙莹 , 王惠萍 , 张霞 , 王春霞 ,  段丽芬

昆明市儿童医院神经内科（昆明 650000）;

Corresponding author：

段丽芬, Email: duanlifen@etyy.cn

Keywords：

DOI：

10.7507/2096-0247.20200075

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Citation： 孙莹, 王惠萍, 张霞, 王春霞, 段丽芬. 单卵双胎 SCN8A 基因突变致癫痫性脑病二例. Journal of Epilepsy, 2020, 6(5): 460-463. doi: 10.7507/2096-0247.20200075 Copy

1.	McTague A, Howell KB, Cross JH, <italic>et al</italic>. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016, 15(3): 304-316.
2.	Veeramah KR, O'Brien JE, Meisler MH, <italic>et al</italic>. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet, 2012, 90(3): 502-510.
3.	Lindy AS, Stosser M B, Butler E, <italic>et al</italic>. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia, 2018, 59(5): 1062.
4.	Meisler MH. SCN8A encephalopathy: Mechanisms and models. Epilepsia, 2019, 60(Suppl 3): 86-91.
5.	Johannesen KM, Gardella E, Encinas AC, <italic>et al</italic>. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia, 2019, 60(5): 830-844.
6.	Encinas AC, Moore I KM, Watkins JC, <italic>et al</italic>. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort. Epilepsia, 2019, 60(8): 1711-1720.
7.	Johannesen KM, Gardella E, Scheffer I, <italic>et al</italic>. Early mortality in SCN8A-related epilepsies. Epilepsy Research, 2018, 143: 79-81.
8.	Atkin TA, Maher CM, Gerlach AC, <italic>et al</italic>. A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy. Epilepsia, 2018, 59(Suppl 2): 802-813.
9.	Boerma RS, Braun KP, van den Broek MP, <italic>et al</italic>. Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach. Neurotherapeutics, 2016, 13(1): 192-197.
10.	Brunklaus A, Du J, Steckler F, <italic>et al</italic>. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia, 2020, 61(3): 387-399.
11.	Schreiber JM, Tochen L, Brown M, <italic>et al</italic>. A multi-disciplinary clinic for SCN8A-related epilepsy. Epilepsy Res, 2020, 159: 106261.

1. McTague A, Howell KB, Cross JH, <italic>et al</italic>. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016, 15(3): 304-316.
2. Veeramah KR, O'Brien JE, Meisler MH, <italic>et al</italic>. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet, 2012, 90(3): 502-510.
3. Lindy AS, Stosser M B, Butler E, <italic>et al</italic>. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. Epilepsia, 2018, 59(5): 1062.
4. Meisler MH. SCN8A encephalopathy: Mechanisms and models. Epilepsia, 2019, 60(Suppl 3): 86-91.
5. Johannesen KM, Gardella E, Encinas AC, <italic>et al</italic>. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia, 2019, 60(5): 830-844.
6. Encinas AC, Moore I KM, Watkins JC, <italic>et al</italic>. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort. Epilepsia, 2019, 60(8): 1711-1720.
7. Johannesen KM, Gardella E, Scheffer I, <italic>et al</italic>. Early mortality in SCN8A-related epilepsies. Epilepsy Research, 2018, 143: 79-81.
8. Atkin TA, Maher CM, Gerlach AC, <italic>et al</italic>. A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy. Epilepsia, 2018, 59(Suppl 2): 802-813.
9. Boerma RS, Braun KP, van den Broek MP, <italic>et al</italic>. Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach. Neurotherapeutics, 2016, 13(1): 192-197.
10. Brunklaus A, Du J, Steckler F, <italic>et al</italic>. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia, 2020, 61(3): 387-399.
11. Schreiber JM, Tochen L, Brown M, <italic>et al</italic>. A multi-disciplinary clinic for SCN8A-related epilepsy. Epilepsy Res, 2020, 159: 106261.

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Journal of Epilepsy

单卵双胎 SCN8A 基因突变致癫痫性脑病二例

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