The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis

References

• Fialho D, Griggs RC, Matthews E. Periodic paralysis. Handb Clin Neurol. 2018;148:505–520.
   PubMedGoogle Scholar
• Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome. Cell. 2001;105(4):511–519.
   PubMed Web of Science ®Google Scholar
• Kokunai Y, Nakata T, Furuta M, et al. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology. 2014;82(12):1058–1064.
   PubMed Web of Science ®Google Scholar
• Statland JM, Fontaine B, Hanna MG, et al. Review of the diagnosis and treatment of periodic paralysis. Muscle Nerve. 2018;57(4):522–530.
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
   PubMed Web of Science ®Google Scholar
• Liu XL, Huang XJ, Luan XH, et al. Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. Channels (Austin). 2015;9(2):82–87.
   PubMed Web of Science ®Google Scholar
• Huang S, Zhang W, Chang X, et al. Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review. Channels (Austin). 2019;13(1):110–119.
   PubMed Web of Science ®Google Scholar
• Vicart S, Sternberg D, Fournier E, et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology. 2004;63(11):2120–2127.
   PubMed Web of Science ®Google Scholar
• Shi J, Qu Q, Liu H, et al. SCN4A p.R675Q mutation leading to normokalemic periodic paralysis: a family report and literature review. Front Neurol. 2019;10:1138.
   PubMed Web of Science ®Google Scholar
• Rudel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol. 1993;50(11):1241–1248.
   PubMedGoogle Scholar
• Bendahhou S, Donaldson MR, Plaster NM, et al. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003;278(51):51779–51785.
   PubMed Web of Science ®Google Scholar
• Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110(3):381–388.
   PubMed Web of Science ®Google Scholar
• Ke Q, Luo B, Qi M, et al. Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. Muscle Nerve. 2013;47(1):41–45.
   PubMed Web of Science ®Google Scholar
• Dogan NO, Avcu N, Yaka E, et al. Weakness in the emergency department: hypokalemic periodic paralysis induced by strenuous physical activity. Turk J Emerg Med. 2016;15(2):93–95.
   PubMed Web of Science ®Google Scholar
• Statland JM, Barohn RJ. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. Continuum (Minneap Minn). 2013;19(6Muscle Disease):1598–1614.
   PubMedGoogle Scholar
• Fan C, Lehmann-Horn F, Weber MA, et al. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation. Brain. 2013;136(Pt12):3775–3786.
   PubMedGoogle Scholar
• De Keyser J, Smitz J, Malfait R, et al. Rhabdomyolysis in hypokalaemic periodic paralysis: a clue to the mechanism that terminates the paralytic attack? J Neurol. 1987;234(2):119–121.
   PubMed Web of Science ®Google Scholar
• Child ND, Cleland JC, Roxburgh R. Andersen-Tawil syndrome presenting as a fixed myopathy. Muscle Nerve. 2013;48(4):623.
   PubMed Web of Science ®Google Scholar
• Lefter S, Hardiman O, Costigan D, et al. Andersen-Tawil syndrome with early fixed myopathy. J Clin Neuromuscul Dis. 2014;16(2):79–82.
   PubMedGoogle Scholar
• Oz Tuncer G, Teber S, Kutluk MG, et al. Andersen-Tawil syndrome with early onset myopathy: 2 cases. J Neuromuscul Dis. 2017;4(1):93–95.
   PubMedGoogle Scholar
• Adams DS, Uzel SG, Akagi J, et al. Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. J Physiol. 2016;594(12):3245–3270.
   PubMed Web of Science ®Google Scholar
• Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain. 2001;124(Pt 6):1091–1099.
   PubMedGoogle Scholar
• Miller TM, Dias da Silva MR, Miller HA, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004;63(9):1647–1655.
   PubMed Web of Science ®Google Scholar
• Engel WK, Bishop DW, Cunningham GG. Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res. 1970;31(5–6):507–525.
   PubMedGoogle Scholar
• Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006;129(Pt 1):8–17.
   PubMedGoogle Scholar
• Nguyen HL, Pieper GH, Wilders R. Andersen-Tawil syndrome: clinical and molecular aspects. Int J Cardiol. 2013;170(1):1–16.
   PubMed Web of Science ®Google Scholar
• Fuster C, Perrot J, Berthier C, et al. Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel. J Physiol. 2017;595(20):6417–6428.
   PubMed Web of Science ®Google Scholar
• Wu F, Quinonez M, DiFranco M, et al. Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels. J Gen Physiol. 2018;150(3):475–489.
   PubMed Web of Science ®Google Scholar
• Luo S, Sampedro Castaneda M, Matthews E, et al. Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. Sci Rep. 2018;8(1):9714.
   PubMedGoogle Scholar
• Sokolov S, Scheuer T, Catterall WA. Gating pore current in an inherited ion channelopathy. Nature. 2007;446(7131):76–78.
   PubMed Web of Science ®Google Scholar
• Song YW, Kim SJ, Heo TH, et al. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve. 2012;46(6):914–916.
   PubMed Web of Science ®Google Scholar
• Cannon SC. Sodium channelopathies of skeletal muscle. Handb Exp Pharmacol. 2018;246:309–330.
   PubMedGoogle Scholar
• Popa MO, Alekov AK, Bail S, et al. Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel. J Physiol. 2004;561(Pt 1):39–51.
   PubMed Web of Science ®Google Scholar
• Ördög B, Hategan L, Kovács M, et al. Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome. Can J Physiol Pharmacol. 2015;93(7):569–575.
   PubMed Web of Science ®Google Scholar
• Jongsma HJ, Wilders R. Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol. 2001;11(18):R747–750.
   PubMed Web of Science ®Google Scholar