Novel Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.

Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.

Lights and Shadows of Long COVID: Are Latent Infections the Real Hidden Enemy?

Long COVID-19 (LC) is a poorly understood, multifactorial condition that persists for at least three months following SARS-CoV-2 infection. The underlying pathophysiological mechanisms responsible for the wide range of associated symptoms-including fatigue, brain fog, and respiratory issues-remain unclear. However, emerging evidence suggests that the reactivation of latent viral infections, such as Epstein-Barr virus, cytomegalovirus, and varicella-zoster virus, may significantly contribute to the complexity of LC.

Idecabtagene vicleucel (ide-cel) for the treatment of triple-class exposed relapsed and refractory multiple myeloma.

Introduction: Modern anti-myeloma therapies have broken new ground in the treatment of the disease, and the incorporation of ide-cel in the treatment landscape represents one of the major scientific and clinical advances.

Areas Covered: Ide-cel was the first cell-based gene therapy approved for the treatment of triple-class exposed relapsed/refractory myeloma patients, showing impressive results, and demonstrating superiority over standard regimens in terms of efficacy, potential treatment-free intervals, and improved quality of life in heavily pretreated patients and in high-risk disease. This review summarizes the state-of-the-art of the most recent updates deriving from the use of ide-cel within ongoing, or upcoming, clinical trials, and from real-life experiences.

Two Novel Variants in the and Genes in Italian Patients with Febrile Seizures.

Background: Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.