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Volumn 77, Issue 4, 2011, Pages 380-383

De novo SCN1A mutations in migrating partial seizures of infancy

(20)  Carranza Rojo, D a   Hamiwka, L b   McMahon, J M a   Dibbens, L M c   Arsov, T a   Suls, A d   Stodberg T e   Kelley, K f   Wirrell, E g   Appleton, B h   MacKay, M i   Freeman, J L i   Yendle, S C a   Berkovic, S F a   Bienvenu, T j   De Jonghe, P d   Thorburn, D R a   Mulley, J C c   Mefford, H C k   Scheffer, I E a,i  


Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; CYCLIN DEPENDENT KINASE LIKE TYPE 5 PROTEIN; MITOCHONDRIAL DNA POLYMERASE GAMMA TYPE 1 PROTEIN; PROTOCADHERIN 19 PROTEIN; SODIUM CHANNEL NAV1.1; SYNTAXIN 1; UNCLASSIFIED DRUG;

EID: 80051530016     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318227046d     Document Type: Article
Times cited : (94)

References (10)
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  • 3
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    • Deprez L, Weckhuysen S, Holmgren P, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010;75:1159-1165.
    • (2010) Neurology , vol.75 , pp. 1159-1165
    • Deprez, L.1    Weckhuysen, S.2    Holmgren, P.3
  • 6
    • 33746882850 scopus 로고    scopus 로고
    • Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
    • DOI 10.1111/j.1399-0004.2006.00629.x
    • Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 2006;70:29-33. (Pubitemid 44192731)
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    • Nectoux, J.1    Heron, D.2    Tallot, M.3    Chelly, J.4    Bienvenu, T.5
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    • (2008) Epilepsy Res , vol.79 , pp. 63-70
    • Grosso, S.1    Pucci, L.2    Curatolo, P.3
  • 9
    • 50649114647 scopus 로고    scopus 로고
    • Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases
    • Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Epilepsy Res 2008;81:69-79.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.