Hyperekplexia in two siblings.
Indian J Pediatr
;
2006 Dec; 73(12): 1109-11
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Reflejo de Sobresalto
/
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
/
Preescolar
/
Síndrome de la Persona Rígida
/
Clonazepam
/
Anticonvulsivantes
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2006
Tipo del documento:
Artículo
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