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673 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; 1993–2025. 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; 1993–2025. 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.
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 …
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 …
Periodic paralysis.
Cannon SC. Cannon SC. Handb Clin Neurol. 2024;203:39-58. doi: 10.1016/B978-0-323-90820-7.00002-1. Handb Clin Neurol. 2024. PMID: 39174253 Free PMC article. Review.
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 …
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif M, Mocanu ID, Abdullah U, Höhne W, Altmüller J, Makhdoom EUH, Thiele H, Baig SM, Nürnberg P, Graul-Neumann L, Hussain MS. Asif M, et al. Am J Med Genet A. 2022 Apr;188(4):1251-1258. doi: 10.1002/ajmg.a.62610. Epub 2021 Dec 16. Am J Med Genet A. 2022. PMID: 34913263
Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to cause ET. In continuation of the …
Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of foreli …
673 results