title: Analysis of EEG patterns and genotypes in patients with Angelman syndrome.
abstract: 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.
authors.affiliation: Boston University, Neurology Department, C-3, Boston, MA 02118, USA.
authors.forename: Martina
authors.initials: M
authors.lastname: Vendrame
authors.forename: Tobias
authors.initials: T
authors.lastname: Loddenkemper
authors.forename: Marcin
authors.initials: M
authors.lastname: Zarowski
authors.forename: Matt
authors.initials: M
authors.lastname: Gregas
authors.forename: Hans
authors.initials: H
authors.lastname: Shuhaiber
authors.forename: Dean P
authors.initials: DP
authors.lastname: Sarco
authors.forename: Augusto
authors.initials: A
authors.lastname: Morales
authors.forename: Mark
authors.initials: M
authors.lastname: Nespeca
authors.forename: Cia
authors.initials: C
authors.lastname: Sharpe
authors.forename: Kevin
authors.initials: K
authors.lastname: Haas
authors.forename: Gregory
authors.initials: G
authors.lastname: Barnes
authors.forename: Daniel
authors.initials: D
authors.lastname: Glaze
authors.forename: Sanjeev V
authors.initials: SV
authors.lastname: Kothare
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D058256:Brain Waves / Q000235:genetics / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012044:Regression Analysis; D012189:Retrospective Studies; D017384:Sequence Deletion / Q000235:genetics*; D012815:Signal Processing, Computer-Assisted; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases