Publications by authors named "Isabelle Iannotti"
Objective: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in the GNAQ gene. Epilepsy is seen in 75%-80% of children with SWS, and they are at high risk of early onset seizures, status epilepticus, and drug-resistant epilepsy. Epilepsy surgery is an effective treatment, but timing and candidacy for epilepsy surgery remain controversial in this patient population.
View Article and Find Full Text PDFAortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Am J Med Genet A
January 2025
Article Synopsis
- - Phelan-McDermid syndrome (PMS) is a rare genetic disorder linked to the loss of the SHANK3 gene, and while many of its clinical features are known, cardiovascular issues, particularly aortic root dilation (ARD), are less explored.
- - A study of 59 PMS participants aimed to determine the prevalence of ARD and its potential links to specific genetic variations, particularly focusing on the size of deletions on chromosome 22.
- - Findings revealed that 14% of participants had ARD, with a statistically significant association between larger chromosome 22 deletions and an increased incidence of ARD, indicating that genetic factors may help identify those at higher risk.
Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.
Ann Child Neurol Soc
March 2024
Background: Ninety percent of infants with Sturge-Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; this is associated with worse neurologic outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high-risk of developing epilepsy such as tuberous sclerosis complex. Electroencephalogram (EEG) may be a biomarker to predict seizure onset.
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