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Volumn 75, Issue 13, 2010, Pages 1132-1133

What causes epileptic encephalopathy in infancy?: The answer may lie in our genes

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5; SODIUM CHANNEL NAV1.1; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN;

EID: 77957968210     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f6bc97     Document Type: Editorial
Times cited : (19)

References (11)
  • 1
    • 64449084287 scopus 로고    scopus 로고
    • New treatment paradigms in neonatal metabolic epilepsies
    • Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis 2009;32:204-213.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 204-213
    • Pearl, P.L.1
  • 2
    • 77957945296 scopus 로고    scopus 로고
    • Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    • 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
  • 3
    • 44349096827 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    • Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40: 782-788.
    • (2008) Nat Genet , vol.40 , pp. 782-788
    • Saitsu, H.1    Kato, M.2    Mizuguchi, T.3
  • 4
    • 59649106592 scopus 로고    scopus 로고
    • Genetics of epilepsy syndromes starting in the first year of life
    • Deprez L, Jansen A, De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009;72:273-281.
    • (2009) Neurology , vol.72 , pp. 273-281
    • Deprez, L.1    Jansen, A.2    De Jonghe, P.3
  • 5
    • 33749242599 scopus 로고    scopus 로고
    • CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
    • Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006; 43:729-734.
    • (2006) J Med Genet , vol.43 , pp. 729-734
    • Archer, H.L.1    Evans, J.2    Edwards, S.3
  • 6
    • 54049089062 scopus 로고    scopus 로고
    • CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
    • Elia M, Falco M, Ferri R, et al. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2008;71:997-999.
    • (2008) Neurology , vol.71 , pp. 997-999
    • Elia, M.1    Falco, M.2    Ferri, R.3
  • 7
    • 77951656572 scopus 로고    scopus 로고
    • Genetic testing in the epilepsies: Report of the ILAE Genetics Commission
    • Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies: report of the ILAE Genetics Commission. Epi-lepsia 2010;51:655-670.
    • (2010) Epi-lepsia , vol.51 , pp. 655-670
    • Ottman, R.1    Hirose, S.2    Jain, S.3
  • 8
    • 54949090865 scopus 로고    scopus 로고
    • Key clinical features to identify girls with CDKL5 mutations
    • Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008;131:2647-2661.
    • (2008) Brain , vol.131 , pp. 2647-2661
    • Bahi-Buisson, N.1    Nectoux, J.2    Rosas-Vargas, H.3
  • 9
    • 34548065480 scopus 로고    scopus 로고
    • Expansion of the first PolyA tract of ARX causes infantile spasms and status dys-tonicus
    • Guerrini R, Moro F, Kato M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dys-tonicus. Neurology 2007;69:427-433.
    • (2007) Neurology , vol.69 , pp. 427-433
    • Guerrini, R.1    Moro, F.2    Kato, M.3
  • 10
    • 33947123754 scopus 로고    scopus 로고
    • The spectrum of SCN1A-related infantile epileptic encephalopathies
    • Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-852.
    • (2007) Brain , vol.130 , pp. 843-852
    • Harkin, L.A.1    McMahon, J.M.2    Iona, X.3
  • 11
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    • Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009;5:e1000381.
    • (2009) PLoS Genet , vol.5
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.