Analysis of EEG patterns and genotypes in patients with Angelman syndrome

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• 作者：Martina Vendrame^a ; ^b ; Tobias Loddenkemper^b ; Marcin Zarowski^b ; ^c ; Matt Gregas^d ; Hans Shuhaiber^a ; Dean P. Sarco^e ; Augusto Morales^f ; Mark Nespeca^g ; Cia Sharpe^g ; Kevin Haas^h ; Gregory Barnes^h ; Daniel Glazeⁱ ; Sanjeev V. Kothare^b ; ^{Sanjeev.Kothare@childrens.harvard.edu}
• 关键词：Angelman ; Deletion ; Uniparental disomy ; Imprinting defects ; EEG abnormalities ; UBE3A mutation ; Prader&ndash ; Willi ; Chromosome 15 ; Rhythmic theta ; Rhythmic delta
• 刊名：Epilepsy & Behavior
• 出版年：2012
• 出版时间：March, 2012
• 年：2012
• 卷：23
• 期：3
• 页码：261-265
• 全文大小：1068 K

文摘

We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study. Of the one-hundred-sixty enrolled patients (2006-2010), 115 had complete data (58 boys, median age 3.6 years). Distinct EEG findings were intermittent rhythmic delta waves (83.5 % ), interictal epileptiform discharges (74.2 % ), intermittent rhythmic theta waves (43.5 % ), and posterior rhythm slowing (43.5 % ). Centro-occipital and centro-temporal delta waves decreased with age (p = 0.01, p = 0.03). There were no specific correlations between EEG patterns and genotypes. A classification tree allowed the prediction of deletions class-1 (5.9 Mb) in patients with intermittent theta waves in < 50 % of EEG and interictal epileptiform abnormalities; UPD, UBE3A mutation or imprinting defects in patients with intermittent theta in < 50 % of EEG without interictal epileptiform abnormalities; deletions class-2 (5.0 Mb) in patients with > 50 % theta and normal posterior rhythm; atypical deletions in patients with > 50 % theta but abnormal posterior rhythm. EEG patterns are important biomarkers in Angelman syndrome and may suggest the underlying genetic etiology.