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Volumn 83, Issue 11, 2014, Pages 1018-1021

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Author keywords

[No Author keywords available]

Indexed keywords

POLYALANINE; POLYPEPTIDE; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; NBPHOX PROTEIN; PEPTIDE; TRANSCRIPTION FACTOR;

EID: 84908336426     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000781     Document Type: Article
Times cited : (17)

References (12)
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  • 2
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    • Sudden unexpected death in epilepsy: Current knowledge and future directions
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  • 3
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    • Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): A retrospective study
    • Ryvlin P, Nashef L, Lhatoo SD, et al. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol 2013;12:966-977.
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    • Ryvlin, P.1    Nashef, L.2    Lhatoo, S.D.3
  • 5
    • 0037379890 scopus 로고    scopus 로고
    • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
    • Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-461.
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  • 6
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    • PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome
    • Trochet D, de Pontual L, Straus C, et al. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med 2008;177: 906-911.
    • (2008) Am J Respir Crit Care Med , vol.177 , pp. 906-911
    • Trochet, D.1    De Pontual, L.2    Straus, C.3
  • 7
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    • Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus
    • Tu E, Bagnall RD, Duflou J, Lynch M, Twigg SM, Semsarian C. Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus. Hum Pathol 2010;41:392-400.
    • (2010) Hum Pathol , vol.41 , pp. 392-400
    • Tu, E.1    Bagnall, R.D.2    Duflou, J.3    Lynch, M.4    Twigg, S.M.5    Semsarian, C.6
  • 8
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    • Tu E, Bagnall RD, Duflou J, Semsarian C. Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol 2011;21:201-208.
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  • 9
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    • Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction
    • Trochet D, Hong SJ, Lim JK, et al. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 2005;14:3697-3708.
    • (2005) Hum Mol Genet , vol.14 , pp. 3697-3708
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  • 10
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  • 11
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    • Liebrechts-Akkerman G, Liu F, Lao O, et al. PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population. Int J Legal Med 2014;128: 621-629.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.