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Volumn 76, Issue 18, 2011, Pages 1600-1602

West syndrome associated with 14q12 duplications harboring FOXG1

(21)  Striano, P a   Paravidino, R b   Sicca, F c   Chiurazzi, P d   Gimelli, S e   Coppola, A f   Robbiano, A g   Traverso, M g   Pintaudi, M h   Giovannini, S j   Operto, F k   Vigliano, P l   Granata, T m   Coppola, G n   Romeo, A o   Specchio, N p   Giordano, L q   Osborne, L R r   Gimelli, G i   Minetti, C a   more..


Author keywords

[No Author keywords available]

Indexed keywords

FOXG1 PROTEIN; PROTEIN DERIVATIVE; RIBONUCLEASE; UNCLASSIFIED DRUG;

EID: 79955642804     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182194bbf     Document Type: Article
Times cited : (53)

References (7)
  • 1
    • 1542564547 scopus 로고    scopus 로고
    • Infantile spasms and West syndrome
    • Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds 3rd ed. London: John Libbey & Co Ltd.
    • Dulac O, Tuxhorn I. Infantile spasms and West syndrome. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence, 3rd ed. London: John Libbey & Co Ltd.; 2002:47-63.
    • (2002) Epileptic Syndromes in Infancy, Childhood and Adolescence , pp. 47-63
    • Dulac, O.1    Tuxhorn, I.2
  • 3
    • 46349099218 scopus 로고    scopus 로고
    • Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    • Marshall CR, Young EJ, Pani AM, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 2008;83:106-111.
    • (2008) Am J Hum Genet , vol.83 , pp. 106-111
    • Marshall, C.R.1    Young, E.J.2    Pani, A.M.3
  • 4
    • 70350621757 scopus 로고    scopus 로고
    • 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
    • Yeung A, Bruno D, Scheffer IE, et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009;52:440-442.
    • (2009) Eur J Med Genet , vol.52 , pp. 440-442
    • Yeung, A.1    Bruno, D.2    Scheffer, I.E.3
  • 5
    • 78650067986 scopus 로고    scopus 로고
    • Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    • Brunetti-Pierri N, Paciorkowski AR, Ciccone R, et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2011;19:102-107.
    • (2011) Eur J Hum Genet , vol.19 , pp. 102-107
    • Brunetti-Pierri, N.1    Paciorkowski, A.R.2    Ciccone, R.3
  • 7
    • 0036368938 scopus 로고    scopus 로고
    • Role of subcortical structures in the pathogenesis of infantile spasms: What are possible subcortical mediators?
    • Lado FA, Moshé SL. Role of subcortical structures in the pathogenesis of infantile spasms: what are possible subcortical mediators? Int Rev Neurobiol 2002;49:115-140.
    • (2002) Int Rev Neurobiol , vol.49 , pp. 115-140
    • Lado, F.A.1    Moshé, S.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.