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Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy

Background and Objectives – Pathogenic variants in the SCN2A gene, encoding the α-subunit type 2 of the voltage-gated sodium channel NaV1.2, cause a phenotypic spectrum including 4 major disorders as benign familial infantile seizures, developmental and epileptic encephalopathy, intellectual disability, and autism. Gain-of-function variants resulting phenotypes may be treated with sodium channel blockers, while loss-of-function (LoF) conditions are non-respondent. We focused on the effects of...

Comparison of Sensory-Adapted and Regular Dental Environments During Professional Oral Hygiene in Children with Mild Intellectual Disability and Moderate Dental Anxiety: A Randomized Clinical Trial

Background and Objectives: Children with mild intellectual disability (MID) frequently experience difficulties during dental treatment due to increased sensitivity to environmental stimuli and limited cooperation. Sensory-adapted dental environments (SADE) have been proposed as a strategy to improve the dental experience of patients with neurodevelopmental conditions; however, evidence regarding their effectiveness in children with MID remains limited. This randomized clinical trial aimed to ...

Exploring how patients, caregivers and clinicians experience pain across therapeutic areas in Italy: a multi-centre narrative medicine project

INTRODUCTION: Despite increased awareness of its multi-dimensional nature, pain remains often underestimated, and its management across different therapeutic areas remains complex. A patient-centred approach is needed to bridge the gap between clinical assessment and individual experience. This project aimed to explore the pain experience across different therapeutic areas through narrative medicine (NM). DIAMOND, the project name, is not an acronym but a symbol meant to shed light on physica...

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder

: The G-protein-coupled receptor kinase-interacting protein 1, GIT1, is a multifunctional scaffold protein that plays key roles in the regulation of actin cytoskeletal dynamics, focal adhesion assembly, membrane trafficking, and intracellular signaling. In mice, loss of Git1 function causes a microcephaly-like phenotype characterized by a smaller brain due to reduced neuronal cell size, accompanied by behavioral deficits, altered gait, and impairment in motor coordination, learning and memory...

A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are increasingly recognized as conditions with a complex, multisystemic origin. ASD frequently co-occurs with other neurological conditions, such as epilepsy. We report a female patient, born to unrelated healthy parents, presenting with a complex clinical phenotype characterized by ASD level 1 with fluent speech, borderline intellectual functioning (BIF), coordination disorder, and epilepsy. Trio-based whole-exome...

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