| 1. |
M-Ferguson S, De-Camilli P. Dynamin, a membrane-remodelling GTPase. Nat Rev Mol Cell Biol, 2012, 13(2): 75-88.
|
| 2. |
M-Ferguson S, Brasnjo G, Hayashi M, et al. A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science. 2007, 316(5824): 570-574.
|
| 3. |
EuroEPINOMICS-RES Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. American journal of human genetics, 2014, 95(4): 360-70.
|
| 4. |
M-Allen N, Conroy J, Shahwan A, et al. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion. Epilepsia, 2016, 57(1): e12-e17.
|
| 5. |
Li H, Fang F, Xu M, et al. Clinical assessments and EEG analyses of encephalopathies associated with Dynamin-1 mutation. Front Pharmacol, 2019, 10: 1454.
|
| 6. |
A-Steward C, Roovers J, Marthe-Suner M, et al. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. NPJ Genom Med, 2019, 4: 31.
|
| 7. |
Deprez L, Jansen A, De-Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology, 2009, 72(3): 273-281.
|
| 8. |
He N, Jian-Lin Z, Wang J, et al. Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies. Genet Med, 2019, 21(1): 17-27.
|
| 9. |
C-Happ H , L-Carvill G. A 2020 view on the genetics of developmental and epileptic encephalopathies. Epilepsy Curr, 2020, 20(2): 90-96.
|
| 10. |
M-Ferguson S, Brasnjo G, Hayashi M, et al. A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science, 2007, 316(5824): 570-574.
|
| 11. |
Yigit G, Sheffer R, Daana M, et al. Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. J Med Genet, 2022, 59(6): 549-553.
|
| 12. |
FDA 批准 Sabril 新的适应证. 药学研究, 2013, 32( 12) : 728.
|
| 13. |
Eke T, F-Talbot J, C-Lawden M. Severe persistent visual field constriction associated with vigabatrin. BMJ, 1997, 314(7075): 180-181.
|
| 14. |
L-Pearl P, G-Vezina L, P-Saneto R, et al. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia, 2009, 50(1): 184-194.
|
| 15. |
W-Wheless J, Carmant L, Bebin M, et al. Magnetic resonance imaging abnormalities associated with vigabatrin in patients with epilepsy. Epilepsia, 2009, 50(1): 195–205.
|
| 16. |
Dracopoulos A, Widjaja E, Raybaud C, et al. Vigabatrin-associated reversible MRI signal changes in patients with infantile spasms. Epilepsia, 2010, 51(4): 1297–1304.
|
| 17. |
Xu Y, Wan L, He W, et al. Risk of vigabatrin-associated brain abnormalities on MRI: a retrospective and controlled study. Epilepsia, 2022, 63(1): 120-129.
|
| 18. |
Reyes-Valenzuela G, Crespo A, Princich J, et al. Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome. Epilepsy Behav, 2022, 129: 108606.
|
| 19. |
Kim J, Yuen-Teng L, Shaker B, et al. Genotypes and phenotypes of DNM1 encephalopathy. J Med Genet, 2023, Online ahead of print.
|
