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Volumn 19, Issue 3, 2010, Pages 306-310

Epilepsy in Prader-Willi syndrome: Clinical characteristics and correlation to genotype

Author keywords

CHRNA7; Epilepsy; Febrile seizures; Imprinting; Prader Willi syndrome; UBE3A; Uniparental disomy

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

EID: 78649956156     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2010.07.007     Document Type: Article
Times cited : (22)

References (37)
  • 2
    • 0027476242 scopus 로고
    • Prader-Willi syndrome: consensus diagnostic criteria
    • Holm V.A., Cassidy S.B., Butler M.G., et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993, 91:398-402.
    • (1993) Pediatrics , vol.91 , pp. 398-402
    • Holm, V.A.1    Cassidy, S.B.2    Butler, M.G.3
  • 4
    • 4344602920 scopus 로고    scopus 로고
    • Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
    • Vogels A., Van Den Ende J., Keymolen K., et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 2004, 12:238-240.
    • (2004) Eur J Hum Genet , vol.12 , pp. 238-240
    • Vogels, A.1    Van Den Ende, J.2    Keymolen, K.3
  • 5
    • 78649958556 scopus 로고    scopus 로고
    • Clinical management of behavioral characteristics of Prader-Willi syndrome
    • Ho A.Y., Dimitropoulos A. Clinical management of behavioral characteristics of Prader-Willi syndrome. Neuropsychiatr Dis Treat 2010, 6:107-118.
    • (2010) Neuropsychiatr Dis Treat , vol.6 , pp. 107-118
    • Ho, A.Y.1    Dimitropoulos, A.2
  • 6
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo T., del Gaudio D., German J.R., et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 2008, 40:719-721.
    • (2008) Nat Genet , vol.40 , pp. 719-721
    • Sahoo, T.1    del Gaudio, D.2    German, J.R.3
  • 8
    • 33645918584 scopus 로고    scopus 로고
    • A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia
    • Thomson A.K., Glasson E.J., Bittles A.H. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia. J Intellect Disabil Res 2006, 50:69-78.
    • (2006) J Intellect Disabil Res , vol.50 , pp. 69-78
    • Thomson, A.K.1    Glasson, E.J.2    Bittles, A.H.3
  • 9
    • 0028969404 scopus 로고
    • Angelman syndrome: consensus for diagnostic criteria
    • for the Angelman Syndrome Foundation
    • Williams C.A., Angelman H., Clayton-Smith J., et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995, 56:237-238. for the Angelman Syndrome Foundation.
    • (1995) Am J Med Genet , vol.56 , pp. 237-238
    • Williams, C.A.1    Angelman, H.2    Clayton-Smith, J.3
  • 10
    • 15144357226 scopus 로고    scopus 로고
    • Angelman syndrome: correlations between epilepsy phenotypes and genotypes
    • Minassian B.A., DeLorey T.M., Olsen R.W., et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998, 43:485-493.
    • (1998) Ann Neurol , vol.43 , pp. 485-493
    • Minassian, B.A.1    DeLorey, T.M.2    Olsen, R.W.3
  • 11
    • 12744274907 scopus 로고    scopus 로고
    • Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
    • Varela M.C., Kok F., Setian N., Kim C.A., Koiffmann C.P. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet 2005, 67:47-52.
    • (2005) Clin Genet , vol.67 , pp. 47-52
    • Varela, M.C.1    Kok, F.2    Setian, N.3    Kim, C.A.4    Koiffmann, C.P.5
  • 12
    • 12744277813 scopus 로고    scopus 로고
    • Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome
    • Wang P.J., Hou J.W., Sue W.C., Lee W.T. Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome. Brain Dev 2005, 27:101-107.
    • (2005) Brain Dev , vol.27 , pp. 101-107
    • Wang, P.J.1    Hou, J.W.2    Sue, W.C.3    Lee, W.T.4
  • 13
    • 67649888504 scopus 로고    scopus 로고
    • Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome
    • Fan Z., Greenwood R., Fisher A., Pendyal S., Powell C.M. Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. Am J Med Genet A 2009, 149A:1581-1584.
    • (2009) Am J Med Genet A , vol.149 , Issue.A , pp. 1581-1584
    • Fan, Z.1    Greenwood, R.2    Fisher, A.3    Pendyal, S.4    Powell, C.M.5
  • 14
    • 0036103117 scopus 로고    scopus 로고
    • Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study
    • Butler J.V., Whittington J.E., Holland A.J., Boer H., Clarke D., Webb T. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 2002, 44:248-255.
    • (2002) Dev Med Child Neurol , vol.44 , pp. 248-255
    • Butler, J.V.1    Whittington, J.E.2    Holland, A.J.3    Boer, H.4    Clarke, D.5    Webb, T.6
  • 15
    • 0028120933 scopus 로고
    • Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome
    • Williams M.S., Rooney B.L., Williams J., Josephson K., Pauli R. Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. Am J Med Genet 1994, 49:302-307.
    • (1994) Am J Med Genet , vol.49 , pp. 302-307
    • Williams, M.S.1    Rooney, B.L.2    Williams, J.3    Josephson, K.4    Pauli, R.5
  • 16
    • 0015387610 scopus 로고
    • Prader-Willi syndrome. A resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence
    • Hall B.D., Smith D.W. Prader-Willi syndrome. A resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr 1972, 81:286-293.
    • (1972) J Pediatr , vol.81 , pp. 286-293
    • Hall, B.D.1    Smith, D.W.2
  • 18
    • 0032858626 scopus 로고    scopus 로고
    • Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
    • Dykens E.M., Cassidy S.B., King B.H. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard 1999, 104:67-77.
    • (1999) Am J Ment Retard , vol.104 , pp. 67-77
    • Dykens, E.M.1    Cassidy, S.B.2    King, B.H.3
  • 19
    • 0033977837 scopus 로고    scopus 로고
    • Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes
    • Roof E., Stone W., MacLean W., Feurer I.D., Thompson T., Butler M.G. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res 2000, 44(Pt. 1):25-30.
    • (2000) J Intellect Disabil Res , vol.44 , Issue.PART. 1 , pp. 25-30
    • Roof, E.1    Stone, W.2    MacLean, W.3    Feurer, I.D.4    Thompson, T.5    Butler, M.G.6
  • 20
    • 0031015938 scopus 로고    scopus 로고
    • Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
    • Cassidy S.B., Forsythe M., Heeger S., et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997, 68:433-440.
    • (1997) Am J Med Genet , vol.68 , pp. 433-440
    • Cassidy, S.B.1    Forsythe, M.2    Heeger, S.3
  • 21
    • 0037065539 scopus 로고    scopus 로고
    • Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy
    • Boer H., Holland A., Whittington J., Butler J., Webb T., Clarke D. Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002, 359:135-136.
    • (2002) Lancet , vol.359 , pp. 135-136
    • Boer, H.1    Holland, A.2    Whittington, J.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 22
    • 0036822094 scopus 로고    scopus 로고
    • A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS
    • Webb T., Whittington J., Clarke D., Boer H., Butler J., Holland A. A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS. Clin Genet 2002, 62:273-281.
    • (2002) Clin Genet , vol.62 , pp. 273-281
    • Webb, T.1    Whittington, J.2    Clarke, D.3    Boer, H.4    Butler, J.5    Holland, A.6
  • 23
    • 0035515362 scopus 로고    scopus 로고
    • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
    • Gunay-Aygun M., Schwartz S., Heeger S., O'Riordan M.A., Cassidy S.B. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001, 108:E92.
    • (2001) Pediatrics , vol.108
    • Gunay-Aygun, M.1    Schwartz, S.2    Heeger, S.3    O'Riordan, M.A.4    Cassidy, S.B.5
  • 24
    • 0034779445 scopus 로고    scopus 로고
    • Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology
    • Blume W.T., Luders H.O., Mizrahi E., Tassinari C., van Emde Boas W., Engel J. Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:1212-1218.
    • (2001) Epilepsia , vol.42 , pp. 1212-1218
    • Blume, W.T.1    Luders, H.O.2    Mizrahi, E.3    Tassinari, C.4    van Emde Boas, W.5    Engel, J.6
  • 25
    • 0029976413 scopus 로고    scopus 로고
    • Epileptiform electroencephalographic patterns
    • Westmoreland B.F. Epileptiform electroencephalographic patterns. Mayo Clin Proc 1996, 71:501-511.
    • (1996) Mayo Clin Proc , vol.71 , pp. 501-511
    • Westmoreland, B.F.1
  • 26
    • 0036728591 scopus 로고    scopus 로고
    • Role and limitations of routine and ambulatory scalp electroencephalography in diagnosing and managing seizures
    • Worrell G.A., Lagerlund T.D., Buchhalter J.R. Role and limitations of routine and ambulatory scalp electroencephalography in diagnosing and managing seizures. Mayo Clin Proc 2002, 77:991-998.
    • (2002) Mayo Clin Proc , vol.77 , pp. 991-998
    • Worrell, G.A.1    Lagerlund, T.D.2    Buchhalter, J.R.3
  • 28
    • 19944432839 scopus 로고    scopus 로고
    • Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy
    • Kumada T., Ito M., Miyajima T., et al. Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev 2005, 27:127-134.
    • (2005) Brain Dev , vol.27 , pp. 127-134
    • Kumada, T.1    Ito, M.2    Miyajima, T.3
  • 29
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader-Willi/Angelman region
    • Horsthemke B., Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 2008, 146A:2041-2052.
    • (2008) Am J Med Genet A , vol.146 , Issue.A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 31
    • 78649927535 scopus 로고    scopus 로고
    • Deletion of the CHRNA7 gene in a patient with Prader-Willi syndrome and epilepsy
    • [abstract], P03.174, M
    • Buffet A., Gaston V., Delobel B., et al. Deletion of the CHRNA7 gene in a patient with Prader-Willi syndrome and epilepsy. European Society of Human Genetics Annual Meeting; Vienna May 23-26 2009, [abstract], P03.174.
    • (2009) European Society of Human Genetics Annual Meeting; Vienna , pp. 23-26
    • Buffet, A.1    Gaston, V.2    Delobel, B.3
  • 32
    • 77949652528 scopus 로고    scopus 로고
    • Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
    • Williams S.R., Mullegama S.V., Rosenfeld J.A., et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet 2010, 18:436-441.
    • (2010) Eur J Hum Genet , vol.18 , pp. 436-441
    • Williams, S.R.1    Mullegama, S.V.2    Rosenfeld, J.A.3
  • 33
    • 14044258486 scopus 로고    scopus 로고
    • Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?
    • Tercero M.F., Cabrera Lopez J.C., Herrero M.M., Rodriguez-Quinones F. Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?. Am J Med Genet A 2005, 133A:213-215.
    • (2005) Am J Med Genet A , vol.133 , Issue.A , pp. 213-215
    • Tercero, M.F.1    Cabrera Lopez, J.C.2    Herrero, M.M.3    Rodriguez-Quinones, F.4
  • 35
    • 0031608062 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
    • Mizugishi K., Yamanaka K., Kuwajima K., Kondo I. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 1998, 43:178-181.
    • (1998) J Hum Genet , vol.43 , pp. 178-181
    • Mizugishi, K.1    Yamanaka, K.2    Kuwajima, K.3    Kondo, I.4
  • 37
    • 46349099218 scopus 로고    scopus 로고
    • Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    • Marshall C.R., Young E.J., Pani A.M., 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.