메뉴 건너뛰기




Volumn 10, Issue 9, 2014, Pages 490-491

Beyond the single nucleotide variant in epilepsy genetics

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOMAL MICROARRAY; CHROMOSOME 15Q; CHROMOSOME DELETION; COPY NUMBER VARIATION; EPILEPSY; GENERALIZED EPILEPSY; GENETIC GENERALIZED EPILEPSY; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MICROARRAY ANALYSIS; PRIORITY JOURNAL; SHORT SURVEY;

EID: 84908086887     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2014.146     Document Type: Short Survey
Times cited : (12)

References (10)
  • 1
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel, C. G. et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010).
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1
  • 2
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford, H. C. et al. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6, e1000962 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000962
    • Mefford, H.C.1
  • 3
    • 77952096810 scopus 로고    scopus 로고
    • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    • Heinzen, E. L. et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am. J. Hum. Genet. 14, 707-718 (2010).
    • (2010) Am. J. Hum. Genet. , vol.14 , pp. 707-718
    • Heinzen, E.L.1
  • 4
    • 84903701403 scopus 로고    scopus 로고
    • Copy number variation plays an important role in clinical epilepsy
    • Olson, H. et al. Copy number variation plays an important role in clinical epilepsy. Ann. Neurol. 75, 943-958 (2014).
    • (2014) Ann. Neurol. , vol.75 , pp. 943-958
    • Olson, H.1
  • 5
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004).
    • (2004) Nat. Genet. , vol.36 , pp. 949-951
    • Iafrate, A.J.1
  • 6
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1
  • 7
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig, I. et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet. 41, 160-162 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 160-162
    • Helbig, I.1
  • 8
    • 84255175953 scopus 로고    scopus 로고
    • Rare copy number variants are an important cause of epileptic encephalopathies
    • Mefford, H. C. et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann. Neurol. 70, 974-985 (2011).
    • (2011) Ann. Neurol. , vol.70 , pp. 974-985
    • Mefford, H.C.1
  • 9
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
    • Dibbens, L. M. et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance. Hum. Mol. Genet. 18, 3626-3631 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1
  • 10
    • 84888253405 scopus 로고    scopus 로고
    • Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
    • Mullen, S. A. et al. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 81, 1507-1514 (2013).
    • (2013) Neurology , vol.81 , pp. 1507-1514
    • Mullen, S.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.