Publications by authors named "Samuela Bugin"
Objective: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature.
Methods: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings.
Article Synopsis
- The study aimed to identify early indicators of relapse and outcomes in pediatric patients with myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).* -
- Researchers analyzed data from 75 children, finding differences in disease presentation based on age; younger patients were more likely to present with acute disseminated encephalomyelitis, while older patients saw more cases of optic neuritis.* -
- Results highlighted specific early treatment factors, such as starting immunotherapy within 7 days or prolonged corticosteroid use, as associated with lower relapse risks; 21.1% of patients had moderate to severe disability at final follow-up, particularly among those with relapsing disease.*
Aim: To improve the genetic, clinical, and neuroradiological characterization of cerebellar involvement in tuberous sclerosis complex (TSC) and determine whether cerebellar lesions could be a reliable biomarker of neurological impairment.
Method: This retrospective cohort study, held at two tertiary paediatric university centres, was conducted on patients with a confirmed diagnosis of TSC who underwent brain magnetic resonance imaging between October 2009 and May 2016. The study population consisted of 112 patients with TSC (median age 10y; range 5mo-38y; 61 females, 51 males).
Purpose: Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated.
Methods: Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0.
Objective: Pneumomediastinum and pneumopericardium are rare occurrences in young athletes, but they can result in potentially life-threatening consequences.
Background: While involved in a rugby match, an 11-year-old boy received a chest compression by 3 players during a tackle. He continued to play, but 2 hours later, he developed sharp retrosternal chest pain.