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Volumn 19, Issue 3, 2010, Pages 296-300

Epilepsy in Rett syndrome: Clinical and genetic features

Author keywords

Drug resistance; Epilepsy; Genotype phenotype correlation; Rett syndrome; Risk factors; Seizure semiology

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

EID: 78649906174     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2010.06.051     Document Type: Article
Times cited : (66)

References (25)
  • 1
    • 0031454558 scopus 로고    scopus 로고
    • Rett syndrome: epidemiology and geographical variability
    • Hagberg B., Hagberg G. Rett syndrome: epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997, 6:S5-S7.
    • (1997) Eur Child Adolesc Psychiatry , vol.6
    • Hagberg, B.1    Hagberg, G.2
  • 2
    • 0037002625 scopus 로고    scopus 로고
    • An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
    • Hagberg B., Hanefeld F., Percy A., Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 2002, 6:293-297.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 4
    • 0034701999 scopus 로고    scopus 로고
    • MECP2 mutations account for most cases of typical forms of Rett syndrome
    • Bienvenu T., Carrie A., De Roux N., et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000, 9:1377-1384.
    • (2000) Hum Mol Genet , vol.9 , pp. 1377-1384
    • Bienvenu, T.1    Carrie, A.2    De Roux, N.3
  • 5
    • 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
  • 6
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F., Hayek G., Rondinella D., et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008, 83:89-93.
    • (2008) Am J Hum Genet , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 7
    • 33749127889 scopus 로고    scopus 로고
    • Predictors of seizure onset in Rett syndrome
    • Jian L., Nagarajan L., de Klerk N., et al. Predictors of seizure onset in Rett syndrome. J Pediatr 2006, 149:542-547.
    • (2006) J Pediatr , vol.149 , pp. 542-547
    • Jian, L.1    Nagarajan, L.2    de Klerk, N.3
  • 8
    • 38849127577 scopus 로고    scopus 로고
    • Parental view of epilepsy in Rett syndrome
    • Bahi-Buisson N., Guellec I., Nabbout R., et al. Parental view of epilepsy in Rett syndrome. Brain Dev 2008, 30:126-130.
    • (2008) Brain Dev , vol.30 , pp. 126-130
    • Bahi-Buisson, N.1    Guellec, I.2    Nabbout, R.3
  • 11
    • 77950503200 scopus 로고    scopus 로고
    • Epilepsy and the natural history of Rett syndrome
    • Glaze D.G., Percy A.K., Skinner S., et al. Epilepsy and the natural history of Rett syndrome. Neurology 2010, 74:909-912.
    • (2010) Neurology , vol.74 , pp. 909-912
    • Glaze, D.G.1    Percy, A.K.2    Skinner, S.3
  • 12
    • 45949096771 scopus 로고    scopus 로고
    • The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
    • Nectoux J., Bahi-Buisson N., Guellec I., et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008, 70:2145-2151.
    • (2008) Neurology , vol.70 , pp. 2145-2151
    • Nectoux, J.1    Bahi-Buisson, N.2    Guellec, I.3
  • 13
    • 65249169270 scopus 로고    scopus 로고
    • The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
    • Zeev B.B., Bebbington A., Ho G., et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009, 72:1242-1247.
    • (2009) Neurology , vol.72 , pp. 1242-1247
    • Zeev, B.B.1    Bebbington, A.2    Ho, G.3
  • 14
    • 0034957202 scopus 로고    scopus 로고
    • A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
    • for the International League against Epilepsy ILAE
    • Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:796-803. for the International League against Epilepsy ILAE.
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel, J.1
  • 15
    • 33645278654 scopus 로고    scopus 로고
    • Defining intractability: comparisons among published definitions
    • Berg A.T., Kelly M.M. Defining intractability: comparisons among published definitions. Epilepsia 2006, 47:431-436.
    • (2006) Epilepsia , vol.47 , pp. 431-436
    • Berg, A.T.1    Kelly, M.M.2
  • 16
    • 54949090865 scopus 로고    scopus 로고
    • Key clinical features to identify girls with CDKL5 mutations
    • Bahi-Buisson N., Nectoux J., Rosas-Vargas H., et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008, 131:2647-2661.
    • (2008) Brain , vol.131 , pp. 2647-2661
    • Bahi-Buisson, N.1    Nectoux, J.2    Rosas-Vargas, H.3
  • 17
    • 44849144752 scopus 로고    scopus 로고
    • The three stages of epilepsy in patients with CDKL5 mutations
    • Bahi-Buisson N., Kaminska A., Boddaert N., et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008, 49:1027-1037.
    • (2008) Epilepsia , vol.49 , pp. 1027-1037
    • Bahi-Buisson, N.1    Kaminska, A.2    Boddaert, N.3
  • 18
    • 37749019135 scopus 로고    scopus 로고
    • Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
    • Pintaudi M., Baglietto M.G., Gaggero R., et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 2008, 12:326-331.
    • (2008) Epilepsy Behav , vol.12 , pp. 326-331
    • Pintaudi, M.1    Baglietto, M.G.2    Gaggero, R.3
  • 19
    • 27144463130 scopus 로고    scopus 로고
    • Early onset seizures and Rett-like features associated with mutations in CDKL5
    • Evans J.C., Archer H.L., Colley J.P., et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005, 13:1113-1120.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1113-1120
    • Evans, J.C.1    Archer, H.L.2    Colley, J.P.3
  • 20
    • 71849094595 scopus 로고    scopus 로고
    • Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria
    • Artuso R., Mencarelli M.A., Polli R., et al. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010, 32:17-24.
    • (2010) Brain Dev , vol.32 , pp. 17-24
    • Artuso, R.1    Mencarelli, M.A.2    Polli, R.3
  • 21
    • 0035130914 scopus 로고    scopus 로고
    • Epilepsy in a representative series of Rett syndrome
    • Steffenburg U., Hagberg G., Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr 2001, 90:34-39.
    • (2001) Acta Paediatr , vol.90 , pp. 34-39
    • Steffenburg, U.1    Hagberg, G.2    Hagberg, B.3
  • 22
    • 33846613245 scopus 로고    scopus 로고
    • Rett syndrome: clinical and electrophysiologic aspects
    • Moser S.J., Weber P., Lütschg J. Rett syndrome: clinical and electrophysiologic aspects. Pediatr Neurol 2007, 36:95-100.
    • (2007) Pediatr Neurol , vol.36 , pp. 95-100
    • Moser, S.J.1    Weber, P.2    Lütschg, J.3
  • 24
    • 59149093556 scopus 로고    scopus 로고
    • Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
    • Renieri A., Mari F., Mencarelli M.A., et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 2009, 31:208-216.
    • (2009) Brain Dev , vol.31 , pp. 208-216
    • Renieri, A.1    Mari, F.2    Mencarelli, M.A.3
  • 25
    • 54349096983 scopus 로고    scopus 로고
    • Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome
    • Buoni S., Zannolli R., Felice C.D., et al. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin Neurophysiol 2008, 119:2455-2458.
    • (2008) Clin Neurophysiol , vol.119 , pp. 2455-2458
    • Buoni, S.1    Zannolli, R.2    Felice, C.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.