A Case of Angelman Syndrome.
- Author:
Joong Chae PARK
1
;
Heung Dong KIM
;
Sook Hwan LEE
Author Information
1. Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Angelman syndrome;
EEG;
Chromosome 15
- MeSH:
Angelman Syndrome*;
Chromosomes, Human, Pair 15;
Diagnosis;
Electroencephalography;
Gait;
Humans;
Infant;
Language Development Disorders;
Laughter;
Seizures
- From:
Journal of the Korean Child Neurology Society
1999;6(2):359-364
- CountryRepublic of Korea
- Language:Korean
-
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.
