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 dele...
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