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Volumn 50, Issue 5, 2014, Pages 530-535

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1

Author keywords

chromosome 14 duplication; epilepsy; epileptic spasms; FOXG1; genetic

Indexed keywords

CLONAZEPAM; CORTICOTROPIN; ETIRACETAM; FOLIC ACID; NITRAZEPAM; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; NERVE PROTEIN;

EID: 84921424986     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.01.022     Document Type: Article
Times cited : (19)

References (11)
  • 1
    • 0037421899 scopus 로고    scopus 로고
    • The DNA sequence and analysis of human chromosome 14
    • R. Heilig, R. Eckenberg, and J.L. Petit et al. The DNA sequence and analysis of human chromosome 14 Nature 421 2003 601 607
    • (2003) Nature , vol.421 , pp. 601-607
    • Heilig, R.1    Eckenberg, R.2    Petit, J.L.3
  • 2
    • 78650067986 scopus 로고    scopus 로고
    • Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    • N. Brunetti-Pierri, A.R. Paciorkowski, and R. Ciccone et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Eur J Hum Genet 19 2011 102 107
    • (2011) Eur J Hum Genet , vol.19 , pp. 102-107
    • Brunetti-Pierri, N.1    Paciorkowski, A.R.2    Ciccone, R.3
  • 3
    • 79955642804 scopus 로고    scopus 로고
    • West syndrome associated with 14q12 duplications harboring FOXG1
    • P. Striano, R. Paravidino, and F. Sicca et al. West syndrome associated with 14q12 duplications harboring FOXG1 Neurology 76 2011 1600 1602
    • (2011) Neurology , vol.76 , pp. 1600-1602
    • Striano, P.1    Paravidino, R.2    Sicca, F.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
    • A. Yeung, D. Bruno, and I.E. Scheffer 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 52 2009 440 442
    • (2009) Eur J Med Genet , vol.52 , pp. 440-442
    • Yeung, A.1    Bruno, D.2    Scheffer, I.E.3
  • 5
    • 80955146569 scopus 로고    scopus 로고
    • Copy number variants and infantile spasms: Evidence for abnormalities in ventral forebrain development and pathways of synaptic function
    • A.R. Paciorkowski, L.L. Thio, and J.A. Rosenfeld et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function Eur J Hum Genet 19 2011 1238 1245
    • (2011) Eur J Hum Genet , vol.19 , pp. 1238-1245
    • Paciorkowski, A.R.1    Thio, L.L.2    Rosenfeld, J.A.3
  • 6
    • 80053094607 scopus 로고    scopus 로고
    • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
    • J. Tohyama, T. Yamamoto, and K. Hosoki et al. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14 Am J Med Genet A 155A 2011 2584 2588
    • (2011) Am J Med Genet A , vol.155 A , pp. 2584-2588
    • Tohyama, J.1    Yamamoto, T.2    Hosoki, K.3
  • 9
    • 84870585042 scopus 로고    scopus 로고
    • Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies
    • R. Guerrini, and E. Parrini Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies Epilepsia 53 2012 2067 2078
    • (2012) Epilepsia , vol.53 , pp. 2067-2078
    • Guerrini, R.1    Parrini, E.2
  • 10
    • 79958061872 scopus 로고    scopus 로고
    • The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
    • F. Kortum, S. Das, and M. Flindt et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis J Med Genet 48 2011 396 406
    • (2011) J Med Genet , vol.48 , pp. 396-406
    • Kortum, F.1    Das, S.2    Flindt, M.3
  • 11
    • 38649135702 scopus 로고    scopus 로고
    • Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
    • M. Kagami, Y. Sekita, and G. Nishimura et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat Genet 40 2008 237 242
    • (2008) Nat Genet , vol.40 , pp. 237-242
    • Kagami, M.1    Sekita, Y.2    Nishimura, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.