<i>NBEA</i>基因变异致发育性癫痫性脑病一例_Journal of Epilepsy

Authors：

刘文 ¹ ,  张勇 ¹ , 胡湘蜀 ¹ , 肖丹夏 ² , 段婧 ³ , 张文强 ⁴

Corresponding author：

张勇, Email: zhangyongsey@163.com

Keywords：

DOI：

10.7507/2096-0247.202210004

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Citation： 刘文, 张勇, 胡湘蜀, 肖丹夏, 段婧, 张文强. NBEA基因变异致发育性癫痫性脑病一例. Journal of Epilepsy, 2023, 9(2): 168-172. doi: 10.7507/2096-0247.202210004 Copy

1.	Niesmann K, Breuer D, Brockhaus J, et al. Dendritic spine formation and synaptic function require neurobeachin. Nat Commun, 2011, 2: 557.
2.	Jacobsen KK, Nievergelt CM, Zayats T, et al. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. J Affect Disord. 2015, 172: 453-461.
3.	Mulhern MS, Stumpel C, Stong N, et al. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018, 84（5）: 788-795.
4.	Schiavoni S, Spagnoli C, Rizzi S, et al. Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant. Epileptic Disord. 2021, 23（5）: 739-743.
5.	Boulin T, Itani O, El Mouridi S, et al. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021, 134（1-2）: 195-202.
6.	Miura S, Shimojo T, Morikawa T, et al. Familial paroxysmal kinesigenic dyskinesia with a novel missense variant （Arg2866Trp） in NBEA. J Hum Genet. 2021, 66（8）: 805-811.
7.	Zhang J, Zhang YH, Chen JY, et al. Clinical phenotypes of TBC1D24 gene related epilepsy. Zhonghua Er Ke Za Zhi. 2018, 56（9）: 667-673.
8.	黄圆圆, 逯军, 线粒体疾病研究进展. 国际儿科学杂志, 2013, 40（5）: 505-510.

1. Niesmann K, Breuer D, Brockhaus J, et al. Dendritic spine formation and synaptic function require neurobeachin. Nat Commun, 2011, 2: 557.
2. Jacobsen KK, Nievergelt CM, Zayats T, et al. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. J Affect Disord. 2015, 172: 453-461.
3. Mulhern MS, Stumpel C, Stong N, et al. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018, 84（5）: 788-795.
4. Schiavoni S, Spagnoli C, Rizzi S, et al. Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant. Epileptic Disord. 2021, 23（5）: 739-743.
5. Boulin T, Itani O, El Mouridi S, et al. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021, 134（1-2）: 195-202.
6. Miura S, Shimojo T, Morikawa T, et al. Familial paroxysmal kinesigenic dyskinesia with a novel missense variant （Arg2866Trp） in NBEA. J Hum Genet. 2021, 66（8）: 805-811.
7. Zhang J, Zhang YH, Chen JY, et al. Clinical phenotypes of TBC1D24 gene related epilepsy. Zhonghua Er Ke Za Zhi. 2018, 56（9）: 667-673.
8. 黄圆圆, 逯军, 线粒体疾病研究进展. 国际儿科学杂志, 2013, 40（5）: 505-510.