Angelman syndrome: Correlations between epilepsy phenotypes and genotypes

Annals of Neurology

Volumn 43, Issue 4, 1998, Pages 485-493

  Minassian, Berge A ^a,c   DeLorey, Timothy M ^a   Olsen, Richard W ^a   Philippart, Michel ^b   Bronstein, Yuri ^a   Zhang, Quanwei ^a,c   Guerrini, Renzo ^d   Van Ness, Paul ^e   Livet, Marie O ^f   Delgado Escueta, Antonio V ^a,b  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e UNIVERSITY OF TEXAS AT DALLAS   (United States)

^f TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CLINICAL ARTICLE; DISEASE SEVERITY; DISOMY; EPILEPSY; GENE DELETION; GENE MUTATION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE FACTORS; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENOMIC IMPRINTING; GENOTYPE; HUMANS; LIGASES; MALE; PHENOTYPE; SEIZURES; UBIQUITIN-PROTEIN LIGASES;

EID: 15144357226     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430412     Document Type: Article

References (29)

1. Angelman H. "Puppet" children: a report of three cases. Dev Med Child Neurol 1965;7:681-687
2. Williams CA, Angelman H, Clayton-Smith J, et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995;56:237-238
3. Christian SL, Robinson WP, Huang B, et al. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 1995;57:40-48
4. Kuwano A, Mutirangura A, Dittrich B, et al. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1992; 1:417-425
5. Zeschnigk M, Schmitz B, Dittrich B, et al. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by genomic sequencing method. Hum Mol Genet 1997;6:387-395
6. Knoll JHM, Glatt KA, Nicholls RD, et al. Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet 1991;48:16-21
7. Rickard SJ, Gilbert HL, Pembrey ME, et al. Molecular characterization of Angelman syndrome patients. Eur J Hum Genet 1996;4(Suppl 1):89
8. Dittrich B, Buiting K, Korn B, et al. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 1996;14:163-170
9. LaSalle JM, Lalande M. Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. Nat Genet 1995;9:386-394
10. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-73
11. Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-77
12. Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988;147:508-513
13. Matsumoto A, Kumagai T, Miura K, et al. Epilespy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992;33:1083-1090
14. Bower BD, Jeavons PM. The "happy puppet" syndrome. Arch Dis Child 1967;46:298-302
15. Pampiglione G, Martinez A. Evolution of Angelman syndrome: follow up of 3 new cases. Electroencephalogr Clin Neurophysiol 1983;56:72P
16. Ganji S, Duncan MC. Angelman's (happy puppet) syndrome: clinical, CT scan and serial electroencephalographic study. Clin Electroencephalogr 1989;20:128-140
17. Sugimoto T, Yasuhara A, Ohta T, et al. Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. Epilepsia 1992;33:1078-1082
18. Viani F, Romeo A, Viri M, et al. Seizures and EEG patterns in Angelman's syndrome. J Child Neurol 1995;10:467-471
19. Laan LAEM, Renier WO, Arts WFM, et al. Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997;38:195-199
20. Hou JW, Wang PJ, Wang TR. Angelman syndrome assessed by neurological and molecular cytogenetic investigations. Pediatr Neurol 1997;16:17-22
21. Guerrini R, DeLorey T, Bonanni P, et al. Cortical myoclonus in Angelman syndrome. Ann Neurol 1996;40:39-48
22. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396
23. Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county. Am J Med Genet 1995;60:261-262
24. Bottani A, Robinson WP, Delozier-Blanchet CD, et al. Angelman syndrome due to uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet 1994;51:35-40
25. Burger J, Kunze J, Sperling K, Reis A. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Am J Med Genet 1996;66:221-226
26. Greger V, Woolf E, Lalande M. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum Mol Genet 1993;2:921-924
27. A receptor expression is reduced in Angelman syndrome. Soc Neurosci 1996;(Abstract):1166
28. Homanics GE, DeLorey TM, Firestone LL, et al. Mice devoid of γ-aminobutyrate type A receptor b3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci USA 1997;94:4143-4148
29. DeLorey TM, Handforth A, Asatourian A, et al. Mice lacking the GABAA receptor b3 subunit gene have some of the characteristics of Angelman syndrome. J Neurochem 1997;69:S236C