Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

Epilepsy Research

Volumn 67, Issue 3, 2005, Pages 163-168

  Valente, Kette D ^a   Fridman, Cintia ^a   Varela, Monica C ^a   Koiffmann, Célia P ^a   Andrade, Joaquina Q ^a   Grossmann, Rosi M ^a   Kok, Fernando ^a   Marques Dias, Maria J ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Angelman syndrome; EEG; Epilepsy; Genotype; UPD

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; NITRAZEPAM; PHENOBARBITAL; PREDNISONE; VALPROIC ACID; VIGABATRIN;

ABSENCE; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPLEX PARTIAL SEIZURE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; GRAND MAL SEIZURE; HAPPY PUPPET SYNDROME; HUMAN; INFANT; KETOGENIC DIET; MYOCLONUS SEIZURE; PATERNITY; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; TONIC SEIZURE; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; DNA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; UNIPARENTAL DISOMY;

EID: 27944452238     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2005.09.003     Document Type: Article

References (13)

1. A. Bottani, W.P. Robinson, and C.D. DeLozier-Blanchet Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am. J. Med. Genet. 51 May (1) 1994 35 40
2. S.G. Boyd, A. Harden, and M.A. Patton The EEG in early diagnosis of the Angelman (happy puppet) syndrome Eur. J. Pediatr. 147 1988 508 513
3. T.M. DeLorey, A. Handforth, S.G. Anagnostaras, G.E. Homanics, B.A. Minassian, A. Asatourian, M.S. Fanselow, A. Delgado-Escueta, G.D. Ellison, and R.W. Olsen Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome J. Neurosci. 18 October (20) 1998 8505 8514
4. C. Fridman, M.C. Varela, F. Kok, A. Diament, and C.P. Koiffmann Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients Am. J. Med. Genet. 92 June (5) 2000 322 327
5. G. Gillessen-Kaesbach, B. Albrecht, E. Passarge, and B. Horsthemke Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype Am. J. Med. Genet. 56 1995 328 329
6. L.A. Laan, W.O. Renier, W.F. Arts, I.M. Buntinx, I.J. vd Burgt, and H. Stroink Evolution of epilepsy and EEG findings in Angelman syndrome Epilepsia 38 1997 195 199
7. A. Mutirangura, F. Greenberg, and M.G. Butler Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy Hum. Mol. Genet. 2 2 1993 143 151
8. T. Matsuura, J.S. Sutcliffe, and P. Fang De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome Nat. Genet. 15 1997 74 77
9. B.A. Minassian, T.M. DeLorey, R.W. Olsen, M. Philippart, Y. Bronstein, Q. Zhang, R. Guerrini, P. Van Ness, M.O. Livet, and A.V. Delgado-Escueta Angelman syndrome: correlations between epilepsy phenotypes and genotypes Ann. Neurol. 43 4 1998 485 493
10. D. Poyatos, M. Guitart, E. Gabau, C. Brun, M. Mila, J. Vaquerizo, and M.D. Coll Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15 J. Med. Genet. 39 February (2) 2002 E4
11. C. Prasad, and J. Wagstaff Genotype and phenotype in Angelman syndrome caused by paternal UPD 15 Am. J. Med. Genet. 70 June (3) 1997 328 329
12. K.D. Valente, J.Q. Andrade, R.M. Grossmann, F. Kok, C. Fridman, C.P. Koiffmann, and M.J. Marques-Dias Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations Epilepsia 44 August (8) 2003 1051 1063
13. C.A. Williams, H. Angelman, and J. Clayton-Smith Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation Am. J. Med. Genet. 56 1995 237 238