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Volumn 28, Issue 10, 2013, Pages 1191-1196

Infantile spasms are associated with abnormal copy number variations

Author keywords

CNV; copy number variation; epilepsy; infantile spasms

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CDKL5; UNCLASSIFIED DRUG;

EID: 84884174784     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812453496     Document Type: Article
Times cited : (13)

References (41)
  • 1
    • 43149094226 scopus 로고    scopus 로고
    • Epileptic syndromes in infancy and childhood
    • Nabbout R, Dulac O. Epileptic syndromes in infancy and childhood. Curr Opin Neurol. 2008 ; 21: 161-166
    • (2008) Curr Opin Neurol , vol.21 , pp. 161-166
    • Nabbout, R.1    Dulac, O.2
  • 2
    • 0018411258 scopus 로고
    • Incidence and aetiology of infantile spasms from 1960 to 1976: A population study in Finland
    • Riikonen R, Donner M. Incidence and aetiology of infantile spasms from 1960 to 1976: a population study in Finland. Dev Med Child Neurol. 1979 ; 21: 333-343
    • (1979) Dev Med Child Neurol , vol.21 , pp. 333-343
    • Riikonen, R.1    Donner, M.2
  • 4
    • 39749180472 scopus 로고    scopus 로고
    • Spectrum of epilepsy in terminal 1p36 deletion syndrome
    • Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia. 2008 ; 49: 509-515
    • (2008) Epilepsia , vol.49 , pp. 509-515
    • Bahi-Buisson, N.1    Guttierrez-Delicado, E.2    Soufflet, C.3
  • 6
    • 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
    • 78049329725 scopus 로고    scopus 로고
    • A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms
    • Ding YX, Zhang Y, He B, Yue WH, Zhang D, Zou LP. A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms. Dev Med Child Neurol. 2010 ; 52: 1028-1032
    • (2010) Dev Med Child Neurol , vol.52 , pp. 1028-1032
    • Ding, Y.X.1    Zhang, Y.2    He, B.3    Yue, W.H.4    Zhang, D.5    Zou, L.P.6
  • 8
    • 78049329316 scopus 로고    scopus 로고
    • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    • Endele S, Rosenberger G, Geider K, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 ; 42: 1021-1026
    • (2010) Nat Genet , vol.42 , pp. 1021-1026
    • Endele, S.1    Rosenberger, G.2    Geider, K.3
  • 9
    • 74549139226 scopus 로고    scopus 로고
    • MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
    • Le Meur N, Holder-Espinasse M, Jaillard S, et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet. 2010 ; 47: 22-29
    • (2010) J Med Genet , vol.47 , pp. 22-29
    • Le Meur, N.1    Holder-Espinasse, M.2    Jaillard, S.3
  • 10
    • 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
  • 11
    • 80955146569 scopus 로고    scopus 로고
    • Copy number variants and infantile spasms: Evidence for abnormalities in ventral forebrain development and pathways of synaptic function
    • Paciorkowski AR, Thio LL, Rosenfeld JA, 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
  • 12
    • 33644644304 scopus 로고    scopus 로고
    • Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
    • Poirier K, Lacombe D, Gilbert-Dussardier B, et al. Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis. Neurogenetics. 2006 ; 7: 39-46
    • (2006) Neurogenetics , vol.7 , pp. 39-46
    • Poirier, K.1    Lacombe, D.2    Gilbert-Dussardier, B.3
  • 13
    • 44349096827 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    • Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008 ; 40: 782-788
    • (2008) Nat Genet , vol.40 , pp. 782-788
    • Saitsu, H.1    Kato, M.2    Mizuguchi, T.3
  • 14
    • 77953120288 scopus 로고    scopus 로고
    • Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
    • Saitsu H, Tohyama J, Kumada T, et al. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010 ; 86: 881-891
    • (2010) Am J Hum Genet , vol.86 , pp. 881-891
    • Saitsu, H.1    Tohyama, J.2    Kumada, T.3
  • 15
    • 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: 103-107
    • (2005) J Med Genet , vol.42 , pp. 103-107
    • Scala, E.1    Ariani, F.2    Mari, F.3
  • 16
    • 0036362145 scopus 로고    scopus 로고
    • Tuberous sclerosis as an underlying basis for infantile spasm
    • Yeung RS. Tuberous sclerosis as an underlying basis for infantile spasm. Int Rev Neurobiol. 2002 ; 49: 315-332
    • (2002) Int Rev Neurobiol , vol.49 , pp. 315-332
    • Yeung, R.S.1
  • 17
    • 33646352936 scopus 로고    scopus 로고
    • Generalist genes: Implications for the cognitive sciences
    • Kovas Y, Plomin R. Generalist genes: implications for the cognitive sciences. Trends Cogn Sci. 2006 ; 10: 198-203
    • (2006) Trends Cogn Sci , vol.10 , pp. 198-203
    • Kovas, Y.1    Plomin, R.2
  • 18
    • 77952503974 scopus 로고    scopus 로고
    • Tourette syndrome is associated with recurrent exonic copy number variants
    • Sundaram SK, Huq AM, Wilson BJ, Chugani HT. Tourette syndrome is associated with recurrent exonic copy number variants. Neurology. 2010 ; 74: 1583-1590
    • (2010) Neurology , vol.74 , pp. 1583-1590
    • Sundaram, S.K.1    Huq, A.M.2    Wilson, B.J.3    Chugani, H.T.4
  • 19
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 ; 14: 417-422
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 20
    • 77952544476 scopus 로고    scopus 로고
    • Copy number variation in Tourette syndrome: Another case of neurodevelopmental generalist genes?
    • Scharf JM, Mathews CA. Copy number variation in Tourette syndrome: another case of neurodevelopmental generalist genes?. Neurology. 2010 ; 74: 1564-1565
    • (2010) Neurology , vol.74 , pp. 1564-1565
    • Scharf, J.M.1    Mathews, C.A.2
  • 21
    • 37249022274 scopus 로고    scopus 로고
    • Huang S, et al. 8p23.1 duplication syndrome: A novel genomic condition with unexpected complexity revealed by array CGH
    • Barber JC, Maloney VK. Huang S, et al. 8p23.1 duplication syndrome: a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet. 2008 ; 16: 18-27
    • (2008) Eur J Hum Genet , vol.16 , pp. 18-27
    • Barber, J.C.1    Maloney, V.K.2
  • 22
    • 25444432040 scopus 로고    scopus 로고
    • Diagnostic genome profiling in mental retardation
    • de Vries BB, Pfundt R, Leisink M, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005 ; 77: 606-616
    • (2005) Am J Hum Genet , vol.77 , pp. 606-616
    • De Vries, B.B.1    Pfundt, R.2    Leisink, M.3
  • 23
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science. 2007 ; 316: 445-449
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3
  • 24
    • 84856225986 scopus 로고    scopus 로고
    • De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    • Kirov G, Pocklington AJ, Holmans P, et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry. 2012 ; 17: 142-153
    • (2012) Mol Psychiatry , vol.17 , pp. 142-153
    • Kirov, G.1    Pocklington, A.J.2    Holmans, P.3
  • 25
    • 79955468664 scopus 로고    scopus 로고
    • Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
    • Balasubramanian M, Smith K, Mordekar SR, Parker MJ. Clinical report: an interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms. Eur J Med Genet. 2011 ; 54: 314-318
    • (2011) Eur J Med Genet , vol.54 , pp. 314-318
    • Balasubramanian, M.1    Smith, K.2    Mordekar, S.R.3    Parker, M.J.4
  • 26
    • 57449106680 scopus 로고    scopus 로고
    • Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array
    • Jasmine F, Ahsan H, Andrulis IL, John EM, Chang-Claude J, Kibriya MG. Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array. Cancer Epidemiol Biomarkers Prev. 2008 ; 17: 3499-3508
    • (2008) Cancer Epidemiol Biomarkers Prev , vol.17 , pp. 3499-3508
    • Jasmine, F.1    Ahsan, H.2    Andrulis, I.L.3    John, E.M.4    Chang-Claude, J.5    Kibriya, M.G.6
  • 27
    • 79251545821 scopus 로고    scopus 로고
    • Accuracy of CNV detection from GWAS data
    • Zhang D, Qian Y, Akula N, et al. Accuracy of CNV detection from GWAS data. PLoS One. 2011 ; 6: e14511
    • (2011) PLoS One , vol.6 , pp. 14511
    • Zhang, D.1    Qian, Y.2    Akula, N.3
  • 28
    • 34247170891 scopus 로고    scopus 로고
    • Lasalle JM. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
    • Hogart A, Nagarajan RP, Patzel KA, Yasui DH. Lasalle JM. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet. 2007 ; 16: 691-703
    • (2007) Hum Mol Genet , vol.16 , pp. 691-703
    • Hogart, A.1    Nagarajan, R.P.2    Patzel, K.A.3    Yasui, D.H.4
  • 29
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup (15) or idic (15) syndrome (tetrasomy 15q)
    • Battaglia A. The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orphanet J Rare Dis. 2008 ; 3: 30
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 30
    • 77951206469 scopus 로고    scopus 로고
    • The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
    • Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis. 2010 ; 38: 181-191
    • (2010) Neurobiol Dis , vol.38 , pp. 181-191
    • Hogart, A.1    Wu, D.2    Lasalle, J.M.3    Schanen, N.C.4
  • 31
    • 39749145715 scopus 로고    scopus 로고
    • Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
    • Wang NJ, Parokonny AS, Thatcher KN, et al. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genet. 2008 ; 9: 2
    • (2008) BMC Genet , vol.9 , pp. 2
    • Wang, N.J.1    Parokonny, A.S.2    Thatcher, K.N.3
  • 32
    • 25144494077 scopus 로고    scopus 로고
    • The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
    • Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, et al. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet. 2005 ; 48: 276-289
    • (2005) Eur J Med Genet , vol.48 , pp. 276-289
    • Van Buggenhout, G.1    Van Ravenswaaij-Arts, C.2    Mc Maas, N.3
  • 33
    • 79955542927 scopus 로고    scopus 로고
    • Case series: 2q33.1 microdeletion syndrome. Further delineation of the phenotype
    • Balasubramanian M, Smith K, Basel-Vanagaite L, et al. Case series: 2q33.1 microdeletion syndrome. Further delineation of the phenotype. J Med Genet. 2011 ; 48: 290-298
    • (2011) J Med Genet , vol.48 , pp. 290-298
    • Balasubramanian, M.1    Smith, K.2    Basel-Vanagaite, L.3
  • 34
    • 0036580712 scopus 로고    scopus 로고
    • Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations
    • Hernando C, Plaja A, Rigola MA, et al. Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. J Med Genet. 2002 ; 39: E24
    • (2002) J Med Genet , vol.39 , pp. 24
    • Hernando, C.1    Plaja, A.2    Riddle, M.A.3
  • 35
    • 34548339637 scopus 로고    scopus 로고
    • Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    • Ballif BC, Hornor SA, Jenkins E, et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet. 2007 ; 39: 1071-1073
    • (2007) Nat Genet , vol.39 , pp. 1071-1073
    • Ballif, B.C.1    Hornor, S.A.2    Jenkins, E.3
  • 36
    • 0038353760 scopus 로고    scopus 로고
    • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
    • Kalscheuer VM, 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: 1401-1411
    • (2003) Am J Hum Genet , vol.72 , pp. 1401-1411
    • Kalscheuer, V.M.1    Tao, J.2    Donnelly, A.3
  • 37
    • 58949088309 scopus 로고    scopus 로고
    • Contact in the genetics of autism and schizophrenia
    • Burbach JP, van der Zwaag B. Contact in the genetics of autism and schizophrenia. Trends Neurosci. 2009 ; 32: 69-72
    • (2009) Trends Neurosci , vol.32 , pp. 69-72
    • Burbach, J.P.1    Van Der Zwaag, B.2
  • 38
    • 77950587223 scopus 로고    scopus 로고
    • Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia
    • Grozeva D, Kirov G, Ivanov D, et al. Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry. 2010 ; 67: 318-327
    • (2010) Arch Gen Psychiatry , vol.67 , pp. 318-327
    • Grozeva, D.1    Kirov, G.2    Ivanov, D.3
  • 39
    • 39049139682 scopus 로고    scopus 로고
    • Neural bases for impaired social cognition in schizophrenia and autism spectrum disorders
    • Pinkham AE, Hopfinger JB, Pelphrey KA, Piven J, Penn DL. Neural bases for impaired social cognition in schizophrenia and autism spectrum disorders. Schizophr Res. 2008 ; 99: 164-175
    • (2008) Schizophr Res , vol.99 , pp. 164-175
    • Pinkham, A.E.1    Hopfinger, J.B.2    Pelphrey, K.A.3    Piven, J.4    Penn, D.L.5
  • 40
    • 33947605931 scopus 로고    scopus 로고
    • Childhood autism and associated comorbidities
    • Zafeiriou DI, Ververi A, Vargiami E. Childhood autism and associated comorbidities. Brain Dev. 2007 ; 29: 257-272
    • (2007) Brain Dev , vol.29 , pp. 257-272
    • Zafeiriou, D.I.1    Ververi, A.2    Vargiami, E.3
  • 41
    • 59649100255 scopus 로고    scopus 로고
    • Tourette syndrome and comorbid pervasive developmental disorders
    • Burd L, Li Q, Kerbeshian J, Klug MG, Freeman RD. Tourette syndrome and comorbid pervasive developmental disorders. J Child Neurol. 2009 ; 24: 170-175
    • (2009) J Child Neurol , vol.24 , pp. 170-175
    • Burd, L.1    Li, Q.2    Kerbeshian, J.3    Klug, M.G.4    Freeman, R.D.5


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