메뉴 건너뛰기




Volumn 121, Issue 5, 2010, Pages 652-657

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome

Author keywords

EEG; Epilepsy; MECP2 gene; Preserved speech variant; Rett syndrome; Zappella variant

Indexed keywords

CARBAMAZEPINE; LAMOTRIGINE; METHYL CPG BINDING PROTEIN 2; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID;

EID: 77949913045     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2010.01.003     Document Type: Article
Times cited : (15)

References (20)
  • 1
    • 33847267187 scopus 로고    scopus 로고
    • Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X chromosome inactivation
    • Archer H.L., Evans J., Leonard H., Colvin L., Ravine D., and Christodoulou J. Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X chromosome inactivation. J Med Genet 44 (2007) 148-152
    • (2007) J Med Genet , vol.44 , pp. 148-152
    • Archer, H.L.1    Evans, J.2    Leonard, H.3    Colvin, L.4    Ravine, D.5    Christodoulou, J.6
  • 2
    • 54349096983 scopus 로고    scopus 로고
    • Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2-mutated Rett syndrome
    • Buoni S., Zannolli R., Saponari S., Strambi M., Dotti M.T., et al. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2-mutated Rett syndrome. Clin Neurophysiol 119 (2008) 2455-2458
    • (2008) Clin Neurophysiol , vol.119 , pp. 2455-2458
    • Buoni, S.1    Zannolli, R.2    Saponari, S.3    Strambi, M.4    Dotti, M.T.5
  • 4
    • 0034957202 scopus 로고    scopus 로고
    • International League Against Epilepsy (ILAE) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy report of the ILAE task force on classification and terminology
    • Engel J. International League Against Epilepsy (ILAE) A 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.1
  • 5
    • 16344387731 scopus 로고    scopus 로고
    • Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)
    • Fisher R., van Emde Boas W., Blume W., Elger C., Genton P., Lee P., et al. Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia 46 (2005) 470-472
    • (2005) Epilepsia , vol.46 , pp. 470-472
    • Fisher, R.1    van Emde Boas, W.2    Blume, W.3    Elger, C.4    Genton, P.5    Lee, P.6
  • 6
    • 77949915652 scopus 로고    scopus 로고
    • Diffuse encephalopathies. In: Daly DD, Pedley TA, editors. Current practice of clinical electroencephalography, 2nd ed. New York: Raven Press Ltd.; 1990, p. 392.
    • Diffuse encephalopathies. In: Daly DD, Pedley TA, editors. Current practice of clinical electroencephalography, 2nd ed. New York: Raven Press Ltd.; 1990, p. 392.
  • 7
    • 27144484259 scopus 로고    scopus 로고
    • Neurophysiology of Rett syndrome
    • Glaze D.G. Neurophysiology of Rett syndrome. Child Neurol 20 (2005) 740-746
    • (2005) Child Neurol , vol.20 , pp. 740-746
    • Glaze, D.G.1
  • 8
    • 0036270792 scopus 로고    scopus 로고
    • Clinical manifestation of stages of Rett syndrome
    • Hagberg B. Clinical manifestation of stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 8 (2002) 61-65
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , pp. 61-65
    • Hagberg, B.1
  • 10
    • 33846613245 scopus 로고    scopus 로고
    • Rett syndrome: clinical and electrophysiologic aspects
    • Moser S.J., Weber P., and Lutschg J. Rett syndrome: clinical and electrophysiologic aspects. Pediatr Neurol 36 (2007) 95-100
    • (2007) Pediatr Neurol , vol.36 , pp. 95-100
    • Moser, S.J.1    Weber, P.2    Lutschg, J.3
  • 11
    • 0031021545 scopus 로고    scopus 로고
    • Unusual EEG theta rhythms over central region in Rett syndrome: considerations of the underlying dysfunction
    • Niedermeyer E., Naidu S.B., and Plate C. Unusual EEG theta rhythms over central region in Rett syndrome: considerations of the underlying dysfunction. Clin Electoencephalog 28 (1997) 36-43
    • (1997) Clin Electoencephalog , vol.28 , pp. 36-43
    • Niedermeyer, E.1    Naidu, S.B.2    Plate, C.3
  • 12
    • 33644652152 scopus 로고    scopus 로고
    • Ultrafast EEG activities and their significance
    • Niedermeyer E. Ultrafast EEG activities and their significance. Clin EEG Neurosci 36 (2005) 257-262
    • (2005) Clin EEG Neurosci , vol.36 , pp. 257-262
    • Niedermeyer, E.1
  • 13
    • 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., Scala E., Ariani F., Longo I., et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 31 (2009) 208-216
    • (2009) Brain Dev , vol.31 , pp. 208-216
    • Renieri, A.1    Mari, F.2    Mencarelli, M.A.3    Scala, E.4    Ariani, F.5    Longo, I.6
  • 14
    • 0024313628 scopus 로고
    • Rett syndrome: an EEG study in 52 girls
    • Robb S.A., Harden A., and Boyd S.G. Rett syndrome: an EEG study in 52 girls. Neuropediatrics 20 (1989) 192-195
    • (1989) Neuropediatrics , vol.20 , pp. 192-195
    • Robb, S.A.1    Harden, A.2    Boyd, S.G.3
  • 17
    • 0023475357 scopus 로고
    • Electroencephalographic abnormalities in Rett syndrome
    • Trauner D.A., and Haas R.H. Electroencephalographic abnormalities in Rett syndrome. Pediatr Neurol 3 (1987) 331-334
    • (1987) Pediatr Neurol , vol.3 , pp. 331-334
    • Trauner, D.A.1    Haas, R.H.2
  • 18
    • 1542344372 scopus 로고    scopus 로고
    • X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome
    • Young J.I., and Zoghbi H.Y. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome. Am J Hum Genet 74 (2004) 511-520
    • (2004) Am J Hum Genet , vol.74 , pp. 511-520
    • Young, J.I.1    Zoghbi, H.Y.2
  • 19
    • 0026680995 scopus 로고
    • The Rett girls with preserved speech
    • Zappella M. The Rett girls with preserved speech. Brain Dev 14 (1992) 98-101
    • (1992) Brain Dev , vol.14 , pp. 98-101
    • Zappella, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.