J Korean Child Neurol Soc.
1999 May;6(2):359-364.
A Case of Angelman Syndrome
- Affiliations
-
- 1Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital, Seoul, Korea.
- 2Human Genetics Lab. of Infertility Medical Center of CHA General Hospital, Department of OB/GYN, Pochon CHA University College of Medicine, Seoul, Korea.
Abstract
- Angelman syndrome is a rare genetic disorder characterized by developmental delay, speech impairment, ataxic gait, paroxysmal laughter, and seizures. The diagnosis is suspected in infants who have the characteristic clinical features and electroencephalographic (EEG) abnormalities, and is confirmed by the genetic identification of a maternally derived 15q11-13 deletion. We report a case of genetically confirmed Angelman syndrome who had the characteristic clinical and EEG features.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Angelman Syndrome with Left Hemicortical Atrophy
- Anesthetic experience for strabismus surgery in a patient with Angelman syndrome: A case report
- Anesthetic management in pediatric patient with Angelman syndrome: A case report
- Anesthesia of a dental patient with Angelman syndrome: A case report
- Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy
