Study Progress of Infantile Spasms in Molecular Genetics / 实用儿科临床杂志
Journal of Applied Clinical Pediatrics
;
(24)1994.
Artículo
en Chino
| WPRIM
| ID: wpr-640208
ABSTRACT
Infantile spasms is a type of refractory epilepsy syndrome.This epilepsy syndrome is characterized by special tonic spasms,a peculiar set of electroencephalographic findings termed hypsarrhythmia,and arrest of psychomotor development in most patients.The etiology is not clearly understood.Recently,mutations of the arista less related homeobox gene(ARX),cyclin-dependent kinase-like 5(CDKL5)/se-rine/threonine kinase 9 gene(STK9),membrane associated guanylate kinase 2 gene(MAGI2),et al,and abnormal chromosome had been found to be responsible for infantile spasms.In this review,progress of infantile spasms in molecular genetics are discussed.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Applied Clinical Pediatrics
Año:
1994
Tipo del documento:
Artículo
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