Publications by authors named "Isabelle Iannotti"
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.
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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