安吉尔曼综合征：单亲父源15号染色体二体导致轻度癫痫，但对脑电图模式无影响。

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

作者信息

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

机构信息

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.

出版信息

Epilepsy Res. 2005 Dec;67(3):163-8. doi: 10.1016/j.eplepsyres.2005.09.003. Epub 2005 Oct 14.

DOI:10.1016/j.eplepsyres.2005.09.003

PMID:16226874

Abstract

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.

摘要

作者描述了四名由最罕见的遗传机制——单亲二体（UPD）导致的天使综合征（AS）患者的电临床表型。对我们的患者以及已发表病例的分析表明，在UPD患者中，癫痫发作时相较于缺失型患者症状较轻，尽管大多数患者脑电图有提示性表现。我们发现UPD患者并不完全符合为天使综合征所描述的情况，这表明对于由不同机制导致的患者应区别对待，以便更好地理解该综合征。