Publications by authors named "M Viri"
Article Synopsis
- EEM is a generalized epilepsy marked by eyelid myoclonia and other symptoms, showing a potential genetic link which is under investigation.
- A study involved 105 individuals with EEM, using whole exome sequencing to analyze genetic variants between two groups: those with isolated EEM (EEM-) and those with additional intellectual disabilities or psychiatric disorders (EEM+).
- Findings revealed that pathogenic variants were predominantly in the CHD2 gene for the EEM+ group, suggesting a stronger genetic association with this subtype, while evidence for a connection in the EEM- group remains inconclusive.
Autism spectrum disorders (ASDs) represent a diagnostic challenge with a still partially uncertain etiology, in which genetic and environmental factors have now been assessed. Among the hypotheses underlying the involvement of biological and environmental factors, the gut-brain axis is of particular interest in autism spectrum disorders. Several studies have highlighted the related incidence of particular gastrointestinal symptoms (GISs) in children suffering from ASDs.
View Article and Find Full Text PDFNeurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexplained syndromic and non-syndromic NDDs receive a diagnosis through first-tier genetic tests as array-CGH and the search for CGG expansion. The aim of this study was to evaluate the clinical performance of a targeted next-generation sequencing (NGS) gene panel as a second-tier test in a group of undiagnosed patients with NDDs.
View Article and Find Full Text PDFObjective: Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to describe the long-term EEG evolution in a larger AIC cohort, followed for up to 23 years, and identify possible early predictors of the clinical and EEG outcomes.
Methods: In a retrospective study, two experienced clinical neurophysiologists systematically reviewed all EEG traces recorded in 12 AIC cases throughout their follow-up, from epilepsy onset to the present.