青少年肌阵挛癫痫一例_Journal of Epilepsy

Authors：

 王燕 , 赵斯钰 , 郑妍妍 , 徐晓科

陕西省西安市儿童医院神经内科（西安 710002）;

Corresponding author：

王燕, Email: wy800709@163.com

Keywords：

DOI：

10.7507/2096-0247.20200060

Video：

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Citation： 王燕, 赵斯钰, 郑妍妍, 徐晓科. 青少年肌阵挛癫痫一例. Journal of Epilepsy, 2020, 6(4): 377-380. doi: 10.7507/2096-0247.20200060 Copy

1.	Yacubian EM. Juvenile myoclonic epilepsy: Challengeson its 60th anniversary. Seizure, 2017, 44: 48.
2.	王凤楼. 正确评估脑电图对提高青少年肌阵挛癫痫诊断的价值. 中华神经科, 2009, 42(7): 468-470.
3.	Iris U, Laura Z, Manuela P, et al. Risky decision making in juvenle myoclonic epilepsy. Frontiers in Neurology, 2018, 9: 195.
4.	Machado RA, Garcíaa VF, Astencio AG, et al. Efficacy and tolerability of lamotrigine in juvenile myoclonic epilepsy in adults: a prospectinve, unblinded randomize controlled trial. Seizure, 2013, 22(10): 846-855.
5.	赵新春, 邢效如, 台立稳. 拉莫三嗪对癫痫患者疗效和安全性及生活质量影响研究. 现代预防医学, 2015, 42(14): 2663-2665.
6.	Marsan E, Ishida S, Schramm A, et al. DEPDC5 knockout rat: a novel model of mTOR opathy. Neurobiol Dis, 2016, 89: 180-189.
7.	Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 2014, 82(23): 2101-2106.
8.	欧阳梅. DEPDC5 基因突变的遗传性局灶性癫痫的临床研究. 癫痫杂志, 2018, 4(3): 192-200.
9.	Shen K, Huang RK, Brignole EJ, et al. Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes. Nature, 2018, 556(7699): 64-69.
10.	梅道启, 符娜, 秦炯. 结节性硬化症 TSC1、TSC2 基因型与临床表型研究进展. 中华实用儿科杂志, 2019, 34(4): 309-314.
11.	陈丽卿, 刘艳. DEPDC5 基因突变相关婴儿痉挛症 3 例报告及文献复习. 临床儿科杂志, 2019, 9(37): 669-672.
12.	Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol, 2014, 75(5): 788-792.
13.	Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.

1. Yacubian EM. Juvenile myoclonic epilepsy: Challengeson its 60th anniversary. Seizure, 2017, 44: 48.
2. 王凤楼. 正确评估脑电图对提高青少年肌阵挛癫痫诊断的价值. 中华神经科, 2009, 42(7): 468-470.
3. Iris U, Laura Z, Manuela P, et al. Risky decision making in juvenle myoclonic epilepsy. Frontiers in Neurology, 2018, 9: 195.
4. Machado RA, Garcíaa VF, Astencio AG, et al. Efficacy and tolerability of lamotrigine in juvenile myoclonic epilepsy in adults: a prospectinve, unblinded randomize controlled trial. Seizure, 2013, 22(10): 846-855.
5. 赵新春, 邢效如, 台立稳. 拉莫三嗪对癫痫患者疗效和安全性及生活质量影响研究. 现代预防医学, 2015, 42(14): 2663-2665.
6. Marsan E, Ishida S, Schramm A, et al. DEPDC5 knockout rat: a novel model of mTOR opathy. Neurobiol Dis, 2016, 89: 180-189.
7. Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 2014, 82(23): 2101-2106.
8. 欧阳梅. DEPDC5 基因突变的遗传性局灶性癫痫的临床研究. 癫痫杂志, 2018, 4(3): 192-200.
9. Shen K, Huang RK, Brignole EJ, et al. Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes. Nature, 2018, 556(7699): 64-69.
10. 梅道启, 符娜, 秦炯. 结节性硬化症 TSC1、TSC2 基因型与临床表型研究进展. 中华实用儿科杂志, 2019, 34(4): 309-314.
11. 陈丽卿, 刘艳. DEPDC5 基因突变相关婴儿痉挛症 3 例报告及文献复习. 临床儿科杂志, 2019, 9(37): 669-672.
12. Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol, 2014, 75(5): 788-792.
13. Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.

Journal of Epilepsy

青少年肌阵挛癫痫一例

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