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Volumn 53, Issue 4, 2011, Pages 354-360

CDKL5 gene-related epileptic encephalopathy: Electroclinical findings in the first year of life

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5;

EID: 79952586788     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03889.x     Document Type: Article
Times cited : (69)

References (12)
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  • 2
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    • Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
    • Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004; 75: 1079-93.
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  • 3
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    • 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: 997-9.
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    • Elia, M.1    Falco, M.2    Ferri, R.3
  • 4
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    • Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
    • Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet 2007; 143: 364-9.
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  • 5
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    • Sartori S, Di Rosa G, Polli R, et al. A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett syndrome. Am J Med Genet 2009; 149: 232-6.
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    • Sartori, S.1    Di Rosa, G.2    Polli, R.3
  • 6
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    • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
    • Kalscheuer VM, Tao J, Donnelly A, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003; 72: 1401-11.
    • (2003) Am J Hum Genet , vol.72 , pp. 1401-1411
    • Kalscheuer, V.M.1    Tao, J.2    Donnelly, A.3
  • 7
    • 30744452971 scopus 로고    scopus 로고
    • Myoclonic encephalopathy in the CDKL5 gene mutation
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    • Buoni, S.1    Zannolli, R.2    Colamaria, V.3
  • 8
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    • The three stages of epilepsy in patients with CDKL5 mutations
    • Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008; 49: 1027-37.
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    • Bahi-Buisson, N.1    Kaminska, A.2    Boddaert, N.3
  • 9
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    • CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
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  • 11
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    • Neonatal seizures
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    • Volpe, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.