KCNQ2 gene and its related diseases / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 255-258, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-862969
ABSTRACT
KCNQ2 encodes a voltage-gated potassium channel that is expressed in the brain.KCNQ2 mutation causes different disease severity ranging from benign familial neonatal seizures 1 with mild clinical symptoms and good psychomotor development at the mild end to early infantile epileptic encephalopathy 7 with severe clinical symptoms and moderate to severe psychomotor developmental abnormalities.At present, according to mutation sites, the pathogenesis of KCNQ2-related disorders includes loss-of-function effects and gain-of-function effects.This article reviews the pathogenesis and clinical manifestations of KCNQ2 gene and KCNQ2-related disorders.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
International Journal of Pediatrics
Año:
2020
Tipo del documento:
Artículo
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