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Original Article

Epilepsy in Korean patients with Angelman syndrome

Sung-Hee Park, Jung-Rim Yoon, Heung Dong Kim, Joon Soo Lee, Young-Mock Lee, Hoon-Chul Kang

Clin Exp Pediatr. 2012;55(5):171-176. Published online May 21, 2012

Crossref 4

Purpose

The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea.

Methods

We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric...

DOI: https://doi.org/10.3345/kjp.2012.55.5.171

Case Report

Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy

Hee Jung Chung, Young Rae Kim, Man Yong Han, Sook Hwan Lee

Clin Exp Pediatr. 2000;43(3):417-422. Published online March 15, 2000

The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features...

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