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Volumn 36, Issue 5, 2014, Pages 402-407

14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

Author keywords

14q12 duplication; Epileptic encephalopathy; FOXG1; Infantile spasms

Indexed keywords

CORTICOTROPIN; VALPROIC ACID; VIGABATRIN; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; NERVE PROTEIN;

EID: 84898048423     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.06.008     Document Type: Article
Times cited : (16)

References (10)
  • 1
    • 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 A.R., Ciccone R., Della Mina R., Bonaglia M.C., Borgatti 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    Della Mina, R.4    Bonaglia, M.C.5    Borgatti, R.6
  • 3
    • 70350621757 scopus 로고    scopus 로고
    • 4.45Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
    • Yeung A., Bruno D., Scheffer I.E., Carranza D., Burgess T., Slater H.R., et al. 4.45Mb 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    Carranza, D.4    Burgess, T.5    Slater, H.R.6
  • 4
    • 80955146569 scopus 로고    scopus 로고
    • Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
    • Paciorkowski A.R., Thio L.L., Rosenfeld J.A., Gajecka M., Gurnett C.A., Kulkarni S., et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 2011, 19:1238-1245.
    • (2011) Eur J Hum Genet , vol.19 , pp. 1238-1245
    • Paciorkowski, A.R.1    Thio, L.L.2    Rosenfeld, J.A.3    Gajecka, M.4    Gurnett, C.A.5    Kulkarni, S.6
  • 5
    • 80053094607 scopus 로고    scopus 로고
    • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
    • Tohyama J., Yamamoto T., Hosoki K., Nagasaki K., Akasaka N., Ohashi T., 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 2011, 155A:2584-2588.
    • (2011) Am J Med Genet A , vol.155 A , pp. 2584-2588
    • Tohyama, J.1    Yamamoto, T.2    Hosoki, K.3    Nagasaki, K.4    Akasaka, N.5    Ohashi, T.6
  • 6
    • 81255208513 scopus 로고    scopus 로고
    • Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
    • Vecchi M., Cassina M., Casarin A., Rigon C., Drigo P., De Palma L., et al. Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. Seizure 2011, 20:813-816.
    • (2011) Seizure , vol.20 , pp. 813-816
    • Vecchi, M.1    Cassina, M.2    Casarin, A.3    Rigon, C.4    Drigo, P.5    De Palma, L.6
  • 8
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    • Shaikh T.H., Gai X., Perin J.C., Glessner J.T., Xie H., Murphy K., et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009, 19:1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3    Glessner, J.T.4    Xie, H.5    Murphy, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.