Fragile X syndrome and epilepsy / 神经科学通报·英文版
Neuroscience Bulletin
;
(6): 338-344, 2008.
Artículo
en Inglés
| WPRIM
| ID: wpr-264658
ABSTRACT
Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Encéfalo
/
Proteínas de Unión al ARN
/
Epilepsia
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
/
Genética
/
Metabolismo
Límite:
Humanos
Idioma:
Inglés
Revista:
Neuroscience Bulletin
Año:
2008
Tipo del documento:
Artículo
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