Hyperekplexia in two siblings.
Indian J Pediatr
;
2006 Dec; 73(12): 1109-11
Artigo
em Inglês
| IMSEAR
| ID: sea-82626
ABSTRACT
Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Reflexo de Sobressalto
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
/
Pré-Escolar
/
Rigidez Muscular Espasmódica
/
Clonazepam
/
Anticonvulsivantes
Tipo de estudo:
Estudo prognóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2006
Tipo de documento:
Artigo
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