Publications by authors named "F Brunello"
With the rapid development of massive sequencing technologies, the analysis of genetic variants for clinical diagnosis has exponentially escalated, particularly in the context of Rare Diseases (RDs). Diagnosing them involves identifying the genetic variants responsible for the underlying pathology development. In 2015, the American College of Medical Genetics (ACMG) established a set of recommendations to assess the evidence associated with each variant, aiming to achieve a standardized five tier classification.
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- Tuberous sclerosis complex (TSC) causes issues like drug-resistant epilepsy and intellectual disabilities due to abnormal cortical structures like cortical tubers.
- * The study aimed to investigate the gyrification index (GI) as a potential indicator of TSC severity, analyzing MRI data of 45 TSC patients and 42 healthy controls.
- * Results showed that TSC patients had a higher GI, which correlated with neurological impairments, epilepsy, and other disorders, suggesting GI could serve as a valuable prognostic tool for characterizing TSC.
Background: Primary Stabbing Headache (PSH) is characterized by brief, focal, and paroxysmal pain ("stab"), occurring sporadically or in clusters. Data on pediatric cases are poor.
Methods: We performed a comprehensive literature review by searching PubMed, Cochrane, and Embase in order to collect pediatric case reports and case series of PSH.
Background: Only a few studies have focused on hemiplegic migraine (HM) in children despite its early age of onset. The aim of this review is to describe the peculiar characteristics of pediatric HM.
Methods: This is a narrative review based on 14 studies on pediatric HM selected from 262 papers.