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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 4
1992 9
1993 7
1994 2
1995 7
1996 2
1997 7
1998 6
1999 6
2000 5
2001 11
2002 14
2003 25
2004 30
2005 18
2006 24
2007 29
2008 37
2009 29
2010 30
2011 31
2012 27
2013 27
2014 30
2015 36
2016 35
2017 24
2018 41
2019 34
2020 45
2021 37
2022 31
2023 22
2024 23

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660 results

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Page 1
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after volunt …
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or los …
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301347 Free Books & Documents. Review.
Treatment of SCN4A-induced myotonic crisis.
Ritter DM, Tian C, Broomall E. Ritter DM, et al. Muscle Nerve. 2021 Jun;63(6):E59-E61. doi: 10.1002/mus.27237. Epub 2021 Mar 31. Muscle Nerve. 2021. PMID: 33745142 No abstract available.
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAG …
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. Liu XL, et al. Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Channels (Austin). 2015. PMID: 25839108 Free PMC article. Review.
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. ...Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CA …
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. ...Genomic DNA was extracted …
New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.
Xi Q, Yi L, Zhou W, Chen J, Yang Z. Xi Q, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Dec 28;46(12):1430-1436. doi: 10.11817/j.issn.1672-7347.2021.200598. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 35232915 Free PMC article. Review.
Whole exome sequencing confirmed c.2395G>A, p.Ala799Thr heterozygous mutation of SCN4A. Carbamazepine was found to be effective on treating the disease. This case expands our understanding of the phenotype resulting from SCN4Amutations. ...
Whole exome sequencing confirmed c.2395G>A, p.Ala799Thr heterozygous mutation of SCN4A. Carbamazepine was found to be effective on …
Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.
Huang S, Zhang W, Chang X, Guo J. Huang S, et al. Channels (Austin). 2019 Dec;13(1):110-119. doi: 10.1080/19336950.2019.1600967. Channels (Austin). 2019. PMID: 30931713 Free PMC article. Review.
RESULTS: The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A. The second proband and part of his family with the overlap of PMC and hypok …
RESULTS: The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified …
A SCN4A mutation causing paramyotonia congenita.
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J. Palma C, et al. Neuromuscul Disord. 2017 Dec;27(12):1123-1125. doi: 10.1016/j.nmd.2017.09.008. Epub 2017 Sep 25. Neuromuscul Disord. 2017. PMID: 29111379
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMI …
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confuse …
660 results