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Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset
Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in GNAQ.1 SWS brain involvement causes seizures, stroke-like episodes and/or neurological deficits such as hemiparesis and intellectual disability. Seventy-five percent of infants with SWS will develop seizures within the first year of life.2 Those with more severe epilepsy experience greater cognitive deficits and intellectual disability.3 There is ictal single-photon emission computed tomography evidence that, in SWS, the seizures themselves may contribute to the brain injury due to an abnormal hemodynamic response.
Source: Pediatric Neurology - November 24, 2018 Category: Neurology Authors: Alyssa M. Day, Adrienne M. Hammill, Csaba Juh ász, Anna L. Pinto, E. Steve Roach, Charles E. McCulloch, Anne M. Comi, National Institutes of Health Sponsor: Rare Diseases Clinical Research Network (RDCRN) Brain and Vascular Malformation Consortium (BVMC) Tags: Perspectives in Pediatric Neurology Source Type: research