Research progress of dishevelled, Egl-10,and pleckstrin domain-containing protein 5 gene-related epilepsy / 中华神经科杂志

ABSTRACT

Mechanistic target of rapamycin (mTOR) pathway has been associated to various neurological diseases,including epilepsy.As a newly discovered mTOR pathway disease,DEPDC5 (dishevelled,Egl-10,and pleckstrin domain-containing protein 5) gene related epilepsy covers a range of clinical phenotypes.Mutations of DEPDC5 gene have been detected in genetic focal epilepsies,focal cortical dysplasia type Ⅱ,and sporadic focal epilepsy cases.It has been reported that hyperactivation of mTOR signaling due to the loss of function of DEPDC5 contributes to epileptogenesis,however more detailed mechanisms remain to be elucidated.DEPDC5 gene-related epilepsy together with other neurodevelopmental diseases characterized by hyperactivation of mTOR signaling has formed a disease spectrum named mTORopathies.