Current Therapeutic Options in XXXX .

@entity1 @entity1169 @entity2194 @entity410 @entity64 @entity3120 @entity10158 @entity2695 @entity455 @entity3932 @entity16 @entity117 @entity726 @entity4848 @entity3809 @entity1462
@entity3932 is a @entity1462 consisting of a facial @entity3809 associated with @entity3120 and a @entity2194 . It is a rare @entity4848 that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in @entity10158 . In @entity1 with @entity3932 , brain involvement typically presents in infancy with @entity410 , @entity64 , and @entity64 -like episodes, and a range of @entity16 . Standard treatment includes laser therapy for the birthmark, control of @entity726 through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose @entity117 is offered. Treatment with @entity1169 has been tried generally without the dramatic results seen in @entity2695 . Treatment with an anticonvulsant or low-dose @entity117 or both before the onset of @entity410 is an option. Surgical resection may be offered to those whose @entity410 are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this @entity455 , and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of @entity3932 .
