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第43卷第6期 张 乔,孟 帆,周其冈. 电压门控钠离子通道在难治性癫痫中的作用机制研究进展[J].
2023年6月 南京医科大学学报(自然科学版),2023,43(6):857-863 ·863 ·
lepsy⁃related voltage⁃gated sodium channelopathies:a re⁃ novel epilepsy mutation in the sodium channel SCN1A
view[J]. Front Pharmacol,2020,11:1276 identifies a cytoplasmic domain for beta subunit interac⁃
[38] GUERRINI R. Dravet syndrome:the main issues[J]. Eur tion[J]. J Neurosci Off J Soc Neurosci,2004,24(44):
J Paediatr Neurol,2012,16(Suppl)1:S1-4 10022-10034
[39] ESCAYG A,MACDONALD B T,MEISLER M H,et al. [49] MANTEGAZZA M,CURIA G,BIAGINI G,et al. Voltage⁃
Mutations of SCN1A,encoding a neuronal sodium chan⁃ gated sodium channels as therapeutic targets in epilepsy
+
nel,in two families with GEFS 2[J]. Nat Genet,2000,24 and other neurological disorders[J]. Lancet Neurol,
(4):343-345 2010,9(4):413-424
[40] MULLEY J C,SCHEFFER I E,PETROU S,et al. SCN1A [50] MASSIMO M,YU F H,POWELL A J,et al. Molecular de⁃
mutations and epilepsy[J]. Human Mutation,2005,25 terminants for modulation of persistent sodium current by
(6):535-542 G⁃protein betagamma subunits[J]. J Neurosci Off J Soc
[41] 袁启锋,余诗倩,姚宝珍. 钠离子通道相关癫痫性脑病 Neurosci,2005,25(13):3341-3349
研究进展[J]. 临床儿科杂志,2021,39(11):875-880 [51] CURIA G,ARACRI P,SANCINI G,et al. Protein⁃kinase
[42] FAN X,HUANG J,JIN X,et al. Cryo⁃EM structure of hu⁃ C ⁃ dependent phosphorylation inhibits the effect of the
man voltage ⁃ gated sodium channel Na(v)1.6[J]. Proc antiepileptic drug topiramate on the persistent fraction of
Natl Acad Sci U S A,2023,120(5):2220578120 sodium currents[J]. Neuroscience,2004,127(1):63-68
[43] AKIN E J,SOLÉ L,JOHNSON B,et al. Single⁃molecule [52] EMI S,HIROHIDE I,MASAHIRO T,et al. Ankyrin ⁃ G
imaging of Na(v)1.6 on the surface of hippocampal neu⁃ regulates inactivation gating of the neuronal sodium chan⁃
rons reveals somatic nanoclusters[J]. Biophys J,2016, nel,Nav1.6[J]. J Neurophysiol,2006,96(3):1347-1357
111(6):1235-1247 [53] FRUSCIONE F,VALENTE P,STERLINI B,et al. PRRT2
[44] RAMAN I M,SPRUNGER L K,MEISLER M H,et al. Al⁃ controls neuronal excitability by negatively modulating
+
tered subthreshold sodium currents and disrupted firing Na channel 1.2/1.6 activity[J]. Brain,2018,141(4):
patterns in Purkinje neurons of SCN8A mutant mice[J]. 1000-1016
Neuron,1997,19(4):881-891 [54] HANNAH S,GIBBS JULIE E,SIMON H,et al. Depletion
[45] MEISLER M,GUY H,HAMMER M F,et al. SCN8A of reduced glutathione precedes inactivation of mitochon⁃
encephalopathy:research progress and prospects[J]. Epi⁃ drial enzymes following limbic status epilepticus in the
lepsia,2016,57(7):1027-1035 rat hippocampus[J]. Neurochem Int,2006,48(2):75-82
[46] MEISLER MIRIAM H. SCN8A encephalopathy:mecha⁃ [55] AMIR M,MOHAMMAD B,SOHRAB N,et al. The cur⁃
nisms and models[J]. Epilepsia,2019,60(S3):86-91 rent and emerging therapeutic approaches in drug⁃resis⁃
[47] ELENA G,CARLA M,MARINA T,et al. The phenotype tant epilepsy management[J]. Acta Neurol Belg,2019,
of SCN8A developmental and epileptic encephalopathy 119(2):155-162
[J]. Neurology,2018,91(12):1112-1124 [收稿日期] 2023-02-15
[48] SPAMPANATO J,KEARNEY J A,DE HAAN G,et al. A (本文编辑:陈汐敏)