Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.
The authors describe the electroclinical phenotype of four patients with Angelman syndrome (AS) determined by its rarest genetic mechanism-uniparental disomy (UPD). The analysis of ours and published patients showed that in UPD, when epilepsy occurred, it was milder compared to patients with deletion, although a suggestive EEG was observed in most patients. We found that UPD patients do not completely fit the scenario delineated for AS, suggesting that patients determined by different mechanisms should be distinctly addressed, for a better understanding of this syndrome.
Valente
Kette D
KD
Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, R. Jesuíno Arruda 901 Apt. 51, 04532-082 São Paulo, SP, Brazil. kettevalente@msn.com
Fridman
Cintia
C
Varela
Monica C
MC
Koiffmann
Célia P
CP
Andrade
Joaquina Q
JQ
Grossmann
Rosi M
RM
Kok
Fernando
F
Marques-Dias
Maria J
MJ
D017204:Angelman Syndrome / Q000235:genetics* / Q000503:physiopathology*; D004247:DNA / Q000235:genetics; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D024182:Uniparental Disomy / Q000235:genetics* / Q000503:physiopathology*
D004247:DNA