A Case of Angelman Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 359-364, 1999.
Artigo
em Coreano
| WPRIM
| ID: wpr-194153
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Cromossomos Humanos Par 15
/
Síndrome de Angelman
/
Diagnóstico
/
Eletroencefalografia
/
Marcha
/
Transtornos do Desenvolvimento da Linguagem
/
Riso
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
1999
Tipo de documento:
Artigo
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