| 1. |
Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia, 2011, 52(10): 1828-1834.
|
| 2. |
張赟健, 周水珍. 早發性癲癇性腦病基因突變研究與診治. 中國實用兒科雜志, 2015, 30(7): 492-497.
|
| 3. |
Cabasson S, F Villéga, Gils JV, et al. Early-onset epileptic encephalopathy related to germline piga mutations: a series of four patients. Neuropediatrics, 2019, 50(S1): 214-220.
|
| 4. |
Scheffer IE , Berkovic S , Capovilla G , et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 2017, 58(Suppl 2): 512-521.
|
| 5. |
Tohyama J, Nakashima M, Nabatame S, et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. Journal of Human Genetics, 2015, 60(4): 167-173.
|
| 6. |
Bennett T, Vann M, Baines O, et al. Spectrin and Ankyrin-based pathways: metazoan inventions for integrating cells into tissues. Physiological Reviews, 2001, 81(3): 1353-1392.
|
| 7. |
Bennett V, Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends in Molecular Medicine, 2008, 14(1): 28-36.
|
| 8. |
Machnicka B, Czogalla A, Hryniewicz-Jankowska A, et al. Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters. Biochimica Et Biophysica Acta, 2014, 1838(2): 620-634.
|
| 9. |
Fleur I, Meary T, Sylvain B, et al. A Mutant αII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this processin vivo. Journal of Biological Chemistry, 2007, 282(19): 14226-1437.
|
| 10. |
Voas MG, Lyons DA, Naylor SG, et al. AlphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons. Current biology, 2007, 17(6): 562-568.
|
| 11. |
Writzl K, Primec ZR, Stra?i?ar BG, et al. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia, 2012, 53(6): e106-e110.
|
| 12. |
Hamdan FF, Saitsu H, Nishiyama K, et al. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. European Journal of Human Genetics, 2012, 20(7): 796-800.
|
| 13. |
Campbell IM, Yatsenko SA, Hixson P, et al. Novel 9q34. 11 gene deletions encompassing combinations of four Mendelian disease genes:STXBP1, SPTAN1, ENG and TOR1A. Genetics in Medicine, 2012, 14(10): 868-876.
|
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