메뉴 건너뛰기




Volumn 23, Issue 3, 2012, Pages 261-265

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

Author keywords

Angelman; Chromosome 15; Deletion; EEG abnormalities; Imprinting defects; Prader Willi; Rhythmic delta; Rhythmic theta; UBE3A mutation; Uniparental disomy

Indexed keywords

UBIQUITIN PROTEIN LIGASE; UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG;

EID: 84858294846     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2011.11.027     Document Type: Article
Times cited : (55)

References (19)
  • 1
    • 77955173454 scopus 로고    scopus 로고
    • Clinical and genetic aspects of Angelman syndrome
    • Williams C.A., Driscoll D.J., Dagli A.I. Clinical and genetic aspects of Angelman syndrome. Genet Med 2011, 12:385-395.
    • (2011) Genet Med , vol.12 , pp. 385-395
    • Williams, C.A.1    Driscoll, D.J.2    Dagli, A.I.3
  • 2
    • 78650675939 scopus 로고    scopus 로고
    • Angelman syndrome: mutations influence features in early childhood
    • Tan W.H., Bacino C.A., Skinner S.A., et al. Angelman syndrome: mutations influence features in early childhood. Am J Med Genet A 2011, 155A:81-90.
    • (2011) Am J Med Genet A , vol.155 A , pp. 81-90
    • Tan, W.H.1    Bacino, C.A.2    Skinner, S.A.3
  • 4
    • 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
  • 5
    • 0141514729 scopus 로고    scopus 로고
    • Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis
    • Dan B., Boyd S.G. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. Neuropediatrics 2003, 34:169-176.
    • (2003) Neuropediatrics , vol.34 , pp. 169-176
    • Dan, B.1    Boyd, S.G.2
  • 6
    • 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
  • 7
    • 18244383565 scopus 로고    scopus 로고
    • Distinct phenotypes distinguish the molecular classes of Angelman syndrome
    • Lossie A.C., Whitney M.M., Amidon D., et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 2001, 38:834-845.
    • (2001) J Med Genet , vol.38 , pp. 834-845
    • Lossie, A.C.1    Whitney, M.M.2    Amidon, D.3
  • 9
    • 0028803823 scopus 로고
    • Seizure and EEG patterns in Angelman's syndrome
    • Viani F., Romeo A., Viri M., et al. Seizure and EEG patterns in Angelman's syndrome. J Child Neurol 1995, 10:467-471.
    • (1995) J Child Neurol , vol.10 , pp. 467-471
    • Viani, F.1    Romeo, A.2    Viri, M.3
  • 10
    • 0142217242 scopus 로고    scopus 로고
    • Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms
    • Guerrini R., Carrozzo R., Rinaldi R., Bonanni P. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Paediatr Drugs 2003, 5:647-661.
    • (2003) Paediatr Drugs , vol.5 , pp. 647-661
    • Guerrini, R.1    Carrozzo, R.2    Rinaldi, R.3    Bonanni, P.4
  • 11
    • 0023925498 scopus 로고
    • The EEG in early diagnosis of the Angelman (happy puppet) syndrome
    • Boyd S.G., Harden A., Patton M.A. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988, 147:508-513.
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 12
    • 12744253284 scopus 로고    scopus 로고
    • Angelman syndrome: is there a characteristic EEG?
    • Laan L.A., Vein A.A. Angelman syndrome: is there a characteristic EEG?. Brain Dev 2005, 27:80-87.
    • (2005) Brain Dev , vol.27 , pp. 80-87
    • Laan, L.A.1    Vein, A.A.2
  • 13
    • 0033041221 scopus 로고    scopus 로고
    • Diagnosis of Angelman syndrome: clinical and EEG criteria
    • Buoni S., Grosso S., Pucci L., Fois A. Diagnosis of Angelman syndrome: clinical and EEG criteria. Brain Dev 1999, 21:296-302.
    • (1999) Brain Dev , vol.21 , pp. 296-302
    • Buoni, S.1    Grosso, S.2    Pucci, L.3    Fois, A.4
  • 14
    • 65549131047 scopus 로고    scopus 로고
    • Myoclonic status in nonprogressive encephalopathies: an update
    • Elia M. Myoclonic status in nonprogressive encephalopathies: an update. Epilepsia 2009, 50(Suppl 5):41-44.
    • (2009) Epilepsia , vol.50 , Issue.SUPPL. 5 , pp. 41-44
    • Elia, M.1
  • 15
    • 0034991011 scopus 로고    scopus 로고
    • The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
    • Herzing L.B., Kim S.J., Cook E.H., Ledbetter D.H. The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am J Hum Genet 2001, 68:1501-1505.
    • (2001) Am J Hum Genet , vol.68 , pp. 1501-1505
    • Herzing, L.B.1    Kim, S.J.2    Cook, E.H.3    Ledbetter, D.H.4
  • 16
    • 0032897757 scopus 로고    scopus 로고
    • Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region
    • Jong M.T., Carey A.H., Caldwell K.A., et al. Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region. Hum Mol Genet 1999, 8:795-803.
    • (1999) Hum Mol Genet , vol.8 , pp. 795-803
    • Jong, M.T.1    Carey, A.H.2    Caldwell, K.A.3
  • 17
    • 0033852735 scopus 로고    scopus 로고
    • Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype
    • Lee S., Kozlov S., Hernandez L., et al. Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Hum Mol Genet 2000, 9:1813-1819.
    • (2000) Hum Mol Genet , vol.9 , pp. 1813-1819
    • Lee, S.1    Kozlov, S.2    Hernandez, L.3
  • 18
    • 0142122897 scopus 로고    scopus 로고
    • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    • Rainier H., Chai J.H., Tokarz D., et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003, 73:967-971.
    • (2003) Am J Hum Genet , vol.73 , pp. 967-971
    • Rainier, H.1    Chai, J.H.2    Tokarz, D.3
  • 19
    • 34247170891 scopus 로고    scopus 로고
    • A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
    • A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet 2007, 16:691-703.
    • (2007) Hum Mol Genet , vol.16 , pp. 691-703
    • Hogart, A.1    Nagarajan, R.P.2    Patzel, K.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.