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Volumn 75, Issue 7, 2010, Pages 641-645

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; DIAZEPAM; LEVODOPA; MEXILETINE; SODIUM CHANNEL NAV1.4;

EID: 77955856284     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181ed9e96     Document Type: Article
Times cited : (67)

References (10)
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    • Mignot C, Doummar D, Maire I, De Villemeur TB. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006;28:39-48.
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    • 33746860795 scopus 로고    scopus 로고
    • Autosomal dominant monosymptomatic myotonia permanens
    • Colding-Jorgensen E, Duno M, Vissing J. Autosomal dominant monosymptomatic myotonia permanens. Neurology 2006;67:153-155.
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    • Colding-Jorgensen, E.1    Duno, M.2    Vissing, J.3
  • 6
    • 33646170186 scopus 로고    scopus 로고
    • A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phe-notypic classification
    • Ferriby D, Stojkovic T, Sternberg D, Hurtevent JF, Hurtevent JP, Vermersch P. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phe-notypic classification. Neuromuscul Disord 2006;16:321-324.
    • (2006) Neuromuscul Disord , vol.16 , pp. 321-324
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  • 7
    • 38949093633 scopus 로고    scopus 로고
    • Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene
    • Gay S, Dupuis D, Faivre L, et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008;146:380-383.
    • (2008) Am J Med Genet A , vol.146 , pp. 380-383
    • Gay, S.1    Dupuis, D.2    Faivre, L.3
  • 8
    • 58149268452 scopus 로고    scopus 로고
    • Neonatal hypotonia can be a sodium channelopathy: Recognition of a new phe-notype
    • Matthews E, Guet A, Mayer M, et al. Neonatal hypotonia can be a sodium channelopathy: recognition of a new phe-notype. Neurology 2008;71:1740-1742.
    • (2008) Neurology , vol.71 , pp. 1740-1742
    • Matthews, E.1    Guet, A.2    Mayer, M.3
  • 9
    • 0037794423 scopus 로고    scopus 로고
    • Myasthenic syndrome caused by mutation of the SCN4A sodium channel
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  • 10
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    • Inactivation defects caused by myotonia associated mutations in the sodium channel III-IV linker
    • Hayward LJ, Brown RH Jr, Cannon SC. Inactivation defects caused by myotonia associated mutations in the sodium channel III-IV linker. J Gen Physiol 1996;107: 559-576.
    • (1996) J Gen Physiol , vol.107 , pp. 559-576
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.