Sirolimus Treatment in Sturge-Weber Syndrome

• Published in: Pediatric neurology Vol. 115; pp. 29 - 40
• Main Authors: Sebold, Alison J., Day, Alyssa M., Ewen, Joshua, Adamek, Jack, Byars, Anna, Cohen, Bernard, Kossoff, Eric H., Mizuno, Tomoyuki, Ryan, Matthew, Sievers, Jacqueline, Smegal, Lindsay, Suskauer, Stacy J., Thomas, Cameron, Vinks, Alexander, Zabel, T. Andrew, Hammill, Adrienne M., Comi, Anne M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2021
• Subjects: Adolescent; Adult; Child; Child, Preschool; Cognitive Dysfunction - diagnosis; Cognitive Dysfunction - drug therapy; Cognitive Dysfunction - etiology; Cognitive function; Drug trial; Electroencephalography; Female; Humans; Male; mTOR pathway; Protein Kinase Inhibitors - administration & dosage; Protein Kinase Inhibitors - adverse effects; Protein Kinase Inhibitors - pharmacology; qEEG; Seizure; Sirolimus; Sirolimus - administration & dosage; Sirolimus - adverse effects; Sirolimus - pharmacology; Stroke; Sturge-Weber syndrome; Sturge-Weber Syndrome - complications; Sturge-Weber Syndrome - drug therapy; Young Adult; Stroke; qEEG; Sirolimus; mTOR pathway; Seizure; Cognitive function; Sturge-Weber syndrome; Drug trial

Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapa...