title: [Clinical manifestation and EEG characteristics of Angelman syndrome].
abstract: OBJECTIVE
  To investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease.
  
  
  METHODS
  Fourteen children with Angelman syndrome received video EEG monitoring, head MRI/CT and gene test, 11 patients received the metabolic investigations (e.g., lactic acid, ammonia, GC/MS and MS/MS). Eight patients received Gesell test. The patients were followed up for 1-3 years.
  
  
  RESULTS
  Of the 14 cases, 4 were male and 10 female, their age was from 8 months to 3 years and 7 months. The clinical characteristics included prominent lower jaw and wide mouth, fair skin and yellow hair, light-colored iris, paroxysmal laughter, astasia and language backward. Twelve patients had epileptic seizures; 10 patients displayed non-convulsive status epilepticus (NCSE), 9 patients displayed myoclonic, atypical absence, and non-convulsive seizure simultaneously; myoclonic, generalized tonic-clonic seizure and complex partial seizure in 1 each; 4 patients had fever in early seizures. The EEG showed paroxysmal middle-high amplitude 2-3 Hz spike and spinous slow-wave in 8 patients. Four patients showed paroxysmal frequently middle-high amplitude 2-3 Hz slow waves mixed with sharps. The other 2 patients showed a normal EEG. All the patients were diagnosed with genetics testing. The results included maternal deletion of chromosome 15q11-13 in 12, paternal uniparental disomy in 1 and imprinting defects in 1.
  
  
  CONCLUSIONS
  There are characteristic clinical manifestation and craniofacial features in Angelman syndrome patients. Some patients have specific EEG patterns. Abnormal region of chromosome 15q11-13 is the basis of diagnosis.
authors.affiliation: Department of Neurology and Rehabilitation, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
authors.forename: Xin-ying
authors.initials: XY
authors.lastname: Yang
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Zou
authors.forename: Fang
authors.initials: F
authors.lastname: Song
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Zhang
authors.forename: Hua
authors.initials: H
authors.lastname: Zheng
authors.forename: Hu-sheng
authors.initials: HS
authors.lastname: Wu
authors.forename: Jing
authors.initials: J
authors.lastname: Xiao
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male