青少年肌陣攣癲癇一例_Journal of Epilepsy

Authors：

 王燕 , 趙斯鈺 , 鄭妍妍 , 徐曉科

陜西省西安市兒童醫院神經內科（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, 趙斯鈺, 鄭妍妍, 徐曉科. 青少年肌陣攣癲癇一例. 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.	王鳳樓. 正確評估腦電圖對提高青少年肌陣攣癲癇診斷的價值. 中華神經科, 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.	趙新春, 邢效如, 臺立穩. 拉莫三嗪對癲癇患者療效和安全性及生活質量影響研究. 現代預防醫學, 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.	歐陽梅. DEPDC5 基因突變的遺傳性局灶性癲癇的臨床研究. 癲癇雜志, 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.	梅道啟, 符娜, 秦炯. 結節性硬化癥 TSC1、TSC2 基因型與臨床表型研究進展. 中華實用兒科雜志, 2019, 34(4): 309-314.
11.	陳麗卿, 劉艷. DEPDC5 基因突變相關嬰兒痙攣癥 3 例報告及文獻復習. 臨床兒科雜志, 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. 王鳳樓. 正確評估腦電圖對提高青少年肌陣攣癲癇診斷的價值. 中華神經科, 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. 趙新春, 邢效如, 臺立穩. 拉莫三嗪對癲癇患者療效和安全性及生活質量影響研究. 現代預防醫學, 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. 歐陽梅. DEPDC5 基因突變的遺傳性局灶性癲癇的臨床研究. 癲癇雜志, 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. 梅道啟, 符娜, 秦炯. 結節性硬化癥 TSC1、TSC2 基因型與臨床表型研究進展. 中華實用兒科雜志, 2019, 34(4): 309-314.
11. 陳麗卿, 劉艷. DEPDC5 基因突變相關嬰兒痙攣癥 3 例報告及文獻復習. 臨床兒科雜志, 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

青少年肌陣攣癲癇一例

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