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Volumn 53, Issue 4, 2011, Pages 296-297

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 79952584034     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03888.x     Document Type: Note
Times cited : (1)

References (9)
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    • CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life
    • DOI: (Published online 11 February 2011).
    • Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol DOI: (Published online 11 February 2011).
    • Dev Med Child Neurol
    • Melani, F.1    Mei, D.2    Pisano, T.3
  • 2
    • 0032144185 scopus 로고    scopus 로고
    • Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
    • Montini E, Andolfi G, Caruso A, et al. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 1998; 51: 427-33.
    • (1998) Genomics , vol.51 , pp. 427-433
    • Montini, E.1    Andolfi, G.2    Caruso, A.3
  • 3
    • 33845988053 scopus 로고    scopus 로고
    • Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
    • Bertani I, Rusconi L, Bolognese F, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-56.
    • (2006) J Biol Chem , vol.281 , pp. 32048-32056
    • Bertani, I.1    Rusconi, L.2    Bolognese, F.3
  • 5
    • 77957196807 scopus 로고    scopus 로고
    • CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling
    • Chen Q, Zhu YC, Yu J, et al. CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 2010; 30: 12777-86.
    • (2010) J Neurosci , vol.30 , pp. 12777-12786
    • Chen, Q.1    Zhu, Y.C.2    Yu, J.3
  • 6
    • 0038353760 scopus 로고    scopus 로고
    • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
    • Kalscheuer V, 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.1    Tao, J.2    Donnelly, A.3
  • 7
    • 13444263520 scopus 로고    scopus 로고
    • CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
    • Scala E, Ariani F, Mari F, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103-7.
    • (2005) J Med Genet , vol.42 , pp. 103-107
    • Scala, E.1    Ariani, F.2    Mari, F.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: 2647-61.
    • (2008) Brain , vol.131 , pp. 2647-2661
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.