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Items: 1 to 20 of 213

1.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.

Palmio J, Sandell S, Hanna MG, Männikkö R, Penttilä S, Udd B.

Neurology. 2017 Apr 18;88(16):1520-1527. doi: 10.1212/WNL.0000000000003846. Epub 2017 Mar 22.

2.

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR.

J Mol Neurosci. 2017 Mar;61(3):312-314. doi: 10.1007/s12031-016-0878-5. Epub 2016 Dec 23.

3.

[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].

Li W, Chen Q, Zhang Q, Li X, Du J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):131-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.001. Chinese.

PMID:
27060299
4.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

5.

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A, Grunseich C, Skov M, Cook L, Aue G, Purev E, Bakar D, Lehky T, Jurkat-Rott K, Pedersen TH, Childs RW.

Neuromuscul Disord. 2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.

6.

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De La Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C.

Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.

7.

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S.

Eur J Hum Genet. 2016 Mar;24(3):400-7. doi: 10.1038/ejhg.2015.125. Epub 2015 Jun 3.

8.

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Chen SD, Tang HD, Cao L.

Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Review.

9.

Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

Xu C, Qi J, Shi Y, Feng Y, Zang W, Zhang J.

Int J Clin Exp Pathol. 2015 Jan 1;8(1):1050-6. eCollection 2015.

10.

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.

Fusco C, Frattini D, Salerno GG, Canali E, Bernasconi P, Maggi L.

Brain Dev. 2015 Oct;37(9):891-3. doi: 10.1016/j.braindev.2015.02.004. Epub 2015 Feb 27.

PMID:
25735906
11.

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Yoshinaga H, Sakoda S, Shibata T, Akiyama T, Oka M, Yuan JH, Takashima H, Takahashi MP, Kitamura T, Murakami N, Kobayashi K.

Pediatr Neurol. 2015 May;52(5):504-8. doi: 10.1016/j.pediatrneurol.2015.01.014. Epub 2015 Jan 29.

PMID:
25724373
12.

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA.

Ann Neurol. 2015 May;77(5):840-50. doi: 10.1002/ana.24389. Epub 2015 Mar 27.

13.

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.

Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund MP, Meola G.

Neuromuscul Disord. 2015 Apr;25(4):301-7. doi: 10.1016/j.nmd.2015.01.006. Epub 2015 Jan 21.

PMID:
25660391
14.

Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.

Ednie AR, Harper JM, Bennett ES.

Biochim Biophys Acta. 2015 Feb;1850(2):307-17. doi: 10.1016/j.bbagen.2014.10.027. Epub 2014 Oct 30.

15.

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

Singh RR, Tan SV, Hanna MG, Robb SA, Clarke A, Jungbluth H.

Pediatrics. 2014 Nov;134(5):e1447-50. doi: 10.1542/peds.2013-3727. Epub 2014 Oct 13.

16.

[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].

Shiga K, Mizuta I, Noto Y, Nakagawa M, Sasaki R, Yamawaki M.

Rinsho Shinkeigaku. 2014;54(5):434-9. Japanese.

PMID:
24943082
17.

Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.

Wu L, Zhang B, Kang Y, Wu W.

Cell Mol Neurobiol. 2014 Jul;34(5):707-14. doi: 10.1007/s10571-014-0052-y. Epub 2014 Mar 29.

PMID:
24682880
18.

Mechanism of tetrodotoxin block and resistance in sodium channels.

Chen R, Chung SH.

Biochem Biophys Res Commun. 2014 Mar 28;446(1):370-4. doi: 10.1016/j.bbrc.2014.02.115. Epub 2014 Mar 4.

PMID:
24607901
19.

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

Groome JR, Lehmann-Horn F, Fan C, Wolf M, Winston V, Merlini L, Jurkat-Rott K.

Brain. 2014 Apr;137(Pt 4):998-1008. doi: 10.1093/brain/awu015. Epub 2014 Feb 18.

20.

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

Biswas S, DiSilvestre DA, Dong P, Tomaselli GF.

PLoS One. 2013 Dec 6;8(12):e81063. doi: 10.1371/journal.pone.0081063. eCollection 2013.

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