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Volumn 16, Issue 6, 2012, Pages 636-641

Seizures and EEG patterns in Pallister-Killian syndrome: 13 New Italian patients

Author keywords

Epilepsy; Epileptic spasms; Focal epilepsy; Mental retardation; Pallister Killian syndrome; Tetrasomy 12 p

Indexed keywords

VALPROIC ACID; VIGABATRIN;

EID: 84867100052     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.03.003     Document Type: Article
Times cited : (10)

References (23)
  • 1
    • 84875237360 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), [MIM#601803]
    • Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nml.nih.gov// OMIM [MIM#601803].
  • 3
    • 0003802608 scopus 로고
    • Case report 72: Mental retardation, unusual facial appearance, abnormal hair
    • W. Killian, and M. Teschler-Nicola Case report 72: mental retardation, unusual facial appearance, abnormal hair Synd Ident 7 1981 6 7
    • (1981) Synd Ident , vol.7 , pp. 6-7
    • Killian, W.1    Teschler-Nicola, M.2
  • 4
    • 0023267179 scopus 로고
    • Isochromosome 12p mosaicism (Pallister Mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases
    • J.F. Reynolds, A. Daniel, and T.E. Kelly Isochromosome 12p mosaicism (Pallister Mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases Am J Med Genet 27 1987 257 274
    • (1987) Am J Med Genet , vol.27 , pp. 257-274
    • Reynolds, J.F.1    Daniel, A.2    Kelly, T.E.3
  • 5
    • 0029967022 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype
    • M.M. Bielanska, M.M. Khalifa, and A.M. Duncan Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype Am J Med Genet 65 1996 104 108
    • (1996) Am J Med Genet , vol.65 , pp. 104-108
    • Bielanska, M.M.1    Khalifa, M.M.2    Duncan, A.M.3
  • 6
    • 12244271506 scopus 로고    scopus 로고
    • Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Review
    • D. Genevieve, V. Cormier-Daire, and D. Sanlaville Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Review Am J Med Genet 116 2003 90 93
    • (2003) Am J Med Genet , vol.116 , pp. 90-93
    • Genevieve, D.1    Cormier-Daire, V.2    Sanlaville, D.3
  • 9
    • 76049116028 scopus 로고    scopus 로고
    • Late-onset epileptic spasms in children with Pallister-Killian syndrome: A report of two new cases and review of electroclinical aspects
    • C. Cerminara, E. Compagnone, and V. Bagnolo Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of electroclinical aspects J Child Neurol 25 2010 238 245
    • (2010) J Child Neurol , vol.25 , pp. 238-245
    • Cerminara, C.1    Compagnone, E.2    Bagnolo, V.3
  • 10
    • 0034957202 scopus 로고    scopus 로고
    • Proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
    • J.A. Engel Proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology Epilepsia 42 2001 796 803
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel, J.A.1
  • 11
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • A.T. Berg, S.F. Berkovic, and M.J. Brodie Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 Epilepsia 51 4 2010 676 685
    • (2010) Epilepsia , vol.51 , Issue.4 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 12
    • 0023250506 scopus 로고
    • Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases
    • D. Warburton, K. Anyane-Yeboa, and U. Francke Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases Am J Med Genet 27 1987 275 283
    • (1987) Am J Med Genet , vol.27 , pp. 275-283
    • Warburton, D.1    Anyane-Yeboa, K.2    Francke, U.3
  • 13
    • 0025885573 scopus 로고
    • Pallister-Killian syndrome: Characterization of the isochromosome 12p byfluorescent in situ hybridization
    • F. Speleman, J.G. Leroy, and N. Van Roy Pallister-Killian syndrome: characterization of the isochromosome 12p byfluorescent in situ hybridization Am J Med Genet 41 1991 381 387
    • (1991) Am J Med Genet , vol.41 , pp. 381-387
    • Speleman, F.1    Leroy, J.G.2    Van Roy, N.3
  • 15
    • 29944434646 scopus 로고    scopus 로고
    • Brain MRI findings of older patients with Pallister-Killian syndrome
    • Y. Saito, K. Masuko, and K. Kaneko Brain MRI findings of older patients with Pallister-Killian syndrome Brain Dev 28 2006 34 38
    • (2006) Brain Dev , vol.28 , pp. 34-38
    • Saito, Y.1    Masuko, K.2    Kaneko, K.3
  • 16
    • 33748629138 scopus 로고    scopus 로고
    • High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome
    • H.J. Stalker, B.A. Gray, A. Bent-Williams, and R.T. Zori High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome Am J Med Genet 140 2006 1950 1954
    • (2006) Am J Med Genet , vol.140 , pp. 1950-1954
    • Stalker, H.J.1    Gray, B.A.2    Bent-Williams, A.3    Zori, R.T.4
  • 17
    • 78649289486 scopus 로고    scopus 로고
    • The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification
    • J.P. Osborne, A.L. Lux, and S.W. Edwards The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification Epilepsia 51 10 2010 2168 2174
    • (2010) Epilepsia , vol.51 , Issue.10 , pp. 2168-2174
    • Osborne, J.P.1    Lux, A.L.2    Edwards, S.W.3
  • 18
    • 77950518063 scopus 로고    scopus 로고
    • Clinical study of West syndrome with PS and late-onset epileptic spasms
    • L. Chen, M. Zhu, H. Zhou, and J. Liang Clinical study of West syndrome with PS and late-onset epileptic spasms Epilepsy Res 89 1 2010 82 88
    • (2010) Epilepsy Res , vol.89 , Issue.1 , pp. 82-88
    • Chen, L.1    Zhu, M.2    Zhou, H.3    Liang, J.4
  • 20
    • 0028695176 scopus 로고
    • Infantile spasms combined with partial seizures: Electroclinical study of eleven cases
    • F. Viani, A. Romeo, M. Mastrangelo, and M. Viri Infantile spasms combined with partial seizures: electroclinical study of eleven cases Ital J Neurol Sci 15 9 1994 463 471
    • (1994) Ital J Neurol Sci , vol.15 , Issue.9 , pp. 463-471
    • Viani, F.1    Romeo, A.2    Mastrangelo, M.3    Viri, M.4
  • 21
    • 79960059906 scopus 로고    scopus 로고
    • Epilepsy in children with Down syndrome
    • R. Arya, M. Kabra, and S. Gulati Epilepsy in children with Down syndrome Epileptic Disord 13 2011 1 7
    • (2011) Epileptic Disord , vol.13 , pp. 1-7
    • Arya, R.1    Kabra, M.2    Gulati, S.3
  • 22
    • 80053564430 scopus 로고    scopus 로고
    • STXBPI-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
    • C. Mignot, M.L. Moutard, and O. Troullard STXBPI-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Epilepsia 52 2011 1820 1827
    • (2011) Epilepsia , vol.52 , pp. 1820-1827
    • Mignot, C.1    Moutard, M.L.2    Troullard, O.3
  • 23
    • 80053563169 scopus 로고    scopus 로고
    • Epileptic and nonepileptic features in patients with early onset encephalopathy and STXBPI mutations
    • M. Milh, N. Villeneuve, and M. Chouchane Epileptic and nonepileptic features in patients with early onset encephalopathy and STXBPI mutations Epilepsia 52 2011 1828 1834
    • (2011) Epilepsia , vol.52 , pp. 1828-1834
    • Milh, M.1    Villeneuve, N.2    Chouchane, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.