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Volumn 7, Issue 3, 2005, Pages 227-230

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation

Author keywords

Absence status; Angelman syndrome; Non convulsive status epilepticus; UBE3A mutation

Indexed keywords

CLOBAZAM; CLONAZEPAM; PHENYTOIN; VALPROIC ACID;

EID: 25844483407     PISSN: 12949361     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (10)
  • 2
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: A review of the clinical and genetic aspects
    • Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.
    • (2003) J Med Genet , vol.40 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 3
    • 0033064375 scopus 로고    scopus 로고
    • Generalized absence seizures with 10-15 Hz fast discharges
    • Fakhoury T, Abou-Khalil B. Generalized absence seizures with 10-15 Hz fast discharges. Clin Neurophysiol 1999; 110: 1029-35.
    • (1999) Clin Neurophysiol , vol.110 , pp. 1029-1035
    • Fakhoury, T.1    Abou-Khalil, B.2
  • 5
    • 0031050904 scopus 로고    scopus 로고
    • Evolution of epilepsy and EEG findings in Angelman syndrome
    • Laan LA, Renier WO, Arts WF, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997; 38: 195-9.
    • (1997) Epilepsia , vol.38 , pp. 195-199
    • Laan, L.A.1    Renier, W.O.2    Arts, W.F.3
  • 7
    • 0032837374 scopus 로고    scopus 로고
    • Towards a molecular understanding of Prader-Willi and Angelman syndromes
    • Mann MR, Bartolomei MS. Towards a molecular understanding of Prader-Willi and Angelman syndromes. Hum Mol Genet 1999; 8: 1867-73.
    • (1999) Hum Mol Genet , vol.8 , pp. 1867-1873
    • Mann, M.R.1    Bartolomei, M.S.2
  • 8
    • 15144357226 scopus 로고    scopus 로고
    • Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
    • Minassian BA, DeLorey TM, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998; 43: 485-93.
    • (1998) Ann Neurol , vol.43 , pp. 485-493
    • Minassian, B.A.1    Delorey, T.M.2    Olsen, R.W.3
  • 9
    • 0033005827 scopus 로고    scopus 로고
    • Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling
    • Moncla A, Malzac P, Livet MO, et al. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. J Med Genet 1999; 36: 554-60.
    • (1999) J Med Genet , vol.36 , pp. 554-560
    • Moncla, A.1    Malzac, P.2    Livet, M.O.3
  • 10
    • 0016823861 scopus 로고
    • Unconsciousness, automatisms, and myoclonic jerks with diffuse rhythmic 9-Hz discharges
    • Nadel A, Waddell G, Volow M, Escueta AV. Unconsciousness, automatisms, and myoclonic jerks with diffuse rhythmic 9-Hz discharges. Epilepsia 1975; 16: 511-20.
    • (1975) Epilepsia , vol.16 , pp. 511-520
    • Nadel, A.1    Waddell, G.2    Volow, M.3    Escueta, A.V.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.