Article

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome

2016-03-18

Abstract excerpt

Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause. GNAQ encodes f...

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Literature Corpus work: 3ac5ef63-f802-59c7-9ff2-5c1c0e5c2f5e
DOI: 10.12688/f1000research.7605.1

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