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1
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).一名因骨骼肌钠通道基因（SCN4A）突变导致高钾性周期性麻痹的患者接受沙丁胺醇治疗。
J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):248-50. doi: 10.1136/jnnp.65.2.248.
2
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.电压门控钠通道的激活与失活：一种新型高钾性周期性麻痹突变揭示的S5片段的作用
J Neurosci. 1999 Jun 15;19(12):4762-71. doi: 10.1523/JNEUROSCI.19-12-04762.1999.
3
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.在一个单一家庭的不同成员中出现了低钾血症性和正常血钾性周期性麻痹，其SCN4A基因存在新的R1129Q突变。
J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):703-4. doi: 10.1136/jnnp.2009.177451.
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Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.高钾性周期性麻痹与17号染色体连锁的确认。
J Med Genet. 1991 Sep;28(9):583-6. doi: 10.1136/jmg.28.9.583.
5
[Favorable results of the treatment of the hyperkalemic form of periodic paralysis with salbutamol].
Neurol Neurochir Pol. 1985 Sep-Oct;19(5):444-7.
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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.13个患有高钾性周期性麻痹和先天性副肌强直的法国家庭中肌肉钠通道基因（SCN4A）的突变：表型与基因型的相关性以及两种突变占主导地位的证明
Eur J Hum Genet. 1994;2(2):110-24. doi: 10.1159/000472351.
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A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.高钾性周期性麻痹中骨骼肌钠通道α亚基的甲硫氨酸至缬氨酸突变。
Nature. 1991 Dec 5;354(6352):387-9. doi: 10.1038/354387a0.
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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.先天性副肌强直症和高钾性周期性麻痹与成人肌肉钠通道基因有关。
Ann Neurol. 1991 Dec;30(6):810-6. doi: 10.1002/ana.410300610.
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Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family.
Ann N Y Acad Sci. 1993 Dec 20;707:342-5. doi: 10.1111/j.1749-6632.1993.tb38065.x.
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Periodic paralysis.周期性瘫痪。
Handb Clin Neurol. 2024;203:39-58. doi: 10.1016/B978-0-323-90820-7.00002-1.
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Functional effects of drugs and toxins interacting with Na1.4.与Na1.4相互作用的药物和毒素的功能效应
Front Pharmacol. 2024 Apr 25;15:1378315. doi: 10.3389/fphar.2024.1378315. eCollection 2024.
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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.靶向治疗骨骼肌肉离子通道病：系统评价与精准医学的发展。
J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582.
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Treatment Updates for Neuromuscular Channelopathies.神经肌肉通道病的治疗进展
Curr Treat Options Neurol. 2020;22(10):34. doi: 10.1007/s11940-020-00644-2. Epub 2020 Aug 22.
5
Skeletal Muscle Channelopathies.骨骼肌通道病。
Neurotherapeutics. 2018 Oct;15(4):954-965. doi: 10.1007/s13311-018-00678-0.
6
Review of the Diagnosis and Treatment of Periodic Paralysis.周期性瘫痪的诊断与治疗综述。
Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29.
7
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.遗传性神经通道病：分子遗传学与临床表型
J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):37-48. doi: 10.1136/jnnp-2015-311233. Epub 2015 Nov 11.
8
Treatment and management of neuromuscular channelopathies.神经肌肉通道病的治疗与管理。
Curr Treat Options Neurol. 2014 Oct;16(10):313. doi: 10.1007/s11940-014-0313-6.
9
Skeletal muscle na channel disorders.骨骼肌钠离子通道病。
Front Pharmacol. 2011 Oct 14;2:63. doi: 10.3389/fphar.2011.00063. eCollection 2011.
10
Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis.钠钾泵刺激可改善高钾周期性麻痹小鼠离体肌肉的收缩能力。
J Gen Physiol. 2011 Jul;138(1):117-30. doi: 10.1085/jgp.201010586.
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