Publications by authors named "F D'Arco"
We describe a set of monozygotic twins with GRIN2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the GRIN2B gene (c.2453T>C, p.Met818Thr).
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- Hippocampal sclerosis (HS) is a major cause of temporal lobe epilepsy (TLE) but can be hard to detect on MRI, leading to surgical delays, so researchers created open-source software to improve diagnosis.
- The study involved 365 participants, using the software HippUnfold to analyze MRI scans and develop a logistic regression model that accurately identifies and localizes HS.
- The classifier showed high accuracy in detecting HS in both initial and independent patient cohorts, proving effective for individual assessments by comparing patient data with normative growth patterns.
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.
View Article and Find Full Text PDFIntegrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.
Neuroradiology
October 2024
Background: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.
Methods: The study was conducted using a dedicated "EPI-MCD MR protocol" with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI.