Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome
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منابع مشابه
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome.
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 caus...
متن کاملEpileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome [version 1; referees: 2 approved]
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 gene has been GNAQ identified as the major caus...
متن کاملEpilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathwa...
متن کاملAngiodysplastic Sturge Weber syndrome.
Accepted 19 November 2017 DesCripTion A 3-year-old boy presented with global developmental delay, abnormal craniofacial growth and left focal seizures since infancy. He was the first child of a non-consanguineous couple with unremarkable perinatal period. Family history was non-contributory. On examination, he had macrocephaly (head circumference 55 cm, >3 z-score), extensive port-wine stain di...
متن کاملSturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patie...
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ژورنال
عنوان ژورنال: F1000Research
سال: 2016
ISSN: 2046-1402
DOI: 10.12688/f1000research.7605.1