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Article

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

Epilepsy research - 1 Dec 2005

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

Abstract excerpt

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...

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PMID: 16226874
DOI: 10.1016/j.eplepsyres.2005.09.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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