表现为 Lennox-Gastaut 综合征的精神智力发育迟滞 13 型一例_Journal of Epilepsy

Authors：

李鑫鑫 , 刘松岩 , 姜丽 , 王富丽 , 冯晓娜 ,  袁雪涛

吉林大学中日联谊医院神经内科（长春 130000）;

Corresponding author：

袁雪涛, Email: 1324146273@qq.com

Keywords：

DOI：

10.7507/2096-0247.20190053

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Citation： 李鑫鑫, 刘松岩, 姜丽, 王富丽, 冯晓娜, 袁雪涛. 表现为 Lennox-Gastaut 综合征的精神智力发育迟滞 13 型一例. Journal of Epilepsy, 2019, 5(4): 320-322. doi: 10.7507/2096-0247.20190053 Copy

1.	Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature, 2013, 501(7466): 217-221.
2.	Mastrangelo M. Lennox-Gastaut Syndrome: a state of the art review. Neuropediatrics, 2017, 48(3): 143-151.
3.	Willemsen MH, Vissers LE, Willemsen MA, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet, 2012, 49(3): 179-183.
4.	Poirier K, Lebrun N, Broix L, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet, 2013, 45(6): 639-647.
5.	Jamuar SS, Lam AT, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med, 2014, 371(8): 733-743.
6.	Vallee RB, McKenney RJ, Ori-McKenney KM. Multiple modes of cytoplasmic dynein regulation. Nat Cell Biol, 2012, 14(3): 224-230.
7.	Harada A, Takei Y, Kanai Y, et al. Golgi vesiculation and lysosome dispersion in cells lacking cytoplasmic dyne in. J Cell Biol, 1998, 141(1): 51-59.
8.	Harms MB, Ori-McKenney KM, Scoto M, et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology, 2012, 78(22): 1714-1720.
9.	Tsurusaki Y, Saitoh S, Tomizawa K, et al. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics, 2012, 13(4): 327-332.
10.	Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet, 2010, 42(12): 1109-1112.

1. Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature, 2013, 501(7466): 217-221.
2. Mastrangelo M. Lennox-Gastaut Syndrome: a state of the art review. Neuropediatrics, 2017, 48(3): 143-151.
3. Willemsen MH, Vissers LE, Willemsen MA, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet, 2012, 49(3): 179-183.
4. Poirier K, Lebrun N, Broix L, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet, 2013, 45(6): 639-647.
5. Jamuar SS, Lam AT, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med, 2014, 371(8): 733-743.
6. Vallee RB, McKenney RJ, Ori-McKenney KM. Multiple modes of cytoplasmic dynein regulation. Nat Cell Biol, 2012, 14(3): 224-230.
7. Harada A, Takei Y, Kanai Y, et al. Golgi vesiculation and lysosome dispersion in cells lacking cytoplasmic dyne in. J Cell Biol, 1998, 141(1): 51-59.
8. Harms MB, Ori-McKenney KM, Scoto M, et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology, 2012, 78(22): 1714-1720.
9. Tsurusaki Y, Saitoh S, Tomizawa K, et al. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics, 2012, 13(4): 327-332.
10. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet, 2010, 42(12): 1109-1112.

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