[HTML][HTML] Exploring the Landscape of Pre-and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved

G Scorrano, L Di Francesco, A Di Ludovico… - International Journal of …, 2024 - mdpi.com
Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain
development, with variable degrees of severity and heterogeneous clinical features. They …

Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction

A Jimenez-Gomez, MX Nguyen, JS Gill - Frontiers in Psychiatry, 2024 - frontiersin.org
Autism spectrum disorders represent a diverse etiological spectrum that converge on a
syndrome characterized by discrepant deficits in developmental domains often highlighted …

The universe is asymmetric, the mouse brain too

A Rivera-Olvera, DJ Houwing, J Ellegood, S Masifi… - Molecular …, 2024 - nature.com
Hemispheric brain asymmetry is a basic organizational principle of the human brain and has
been implicated in various psychiatric conditions, including autism spectrum disorder. Brain …

Vasostatin-1 restores autistic disorders in an idiopathic autism model (BTBR T+ Itpr3tf/J mice) by decreasing hippocampal neuroinflammation

E Avolio, I Olivito, A Leo, C De Matteo… - Progress in Neuro …, 2024 - Elsevier
Abstract Chromogranin A (CgA), a∼ 49 kDa acidic secretory protein, is ubiquitously
distributed in endocrine and neuroendocrine cells and neurons. As a propeptide, CgA is …

Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders

HB Gerik‐Celebi, H Bolat… - Developmental …, 2024 - Wiley Online Library
The interaction of neurexins (NRXNs) in the presynaptic membrane with postsynaptic cell
adhesion molecules called neuroligins (NLGNs) is critical for this synaptic function. Impaired …

The Effect of N52R Mutation at the SPN-ARR Interface on the Conformational Dynamics of SHANK3

HK Almaadani, VSK Mattaparthi - Current Proteomics, 2024 - benthamdirect.com
Background Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition.
The genetic basis of ASD involves numerous loci converging on neural pathways …

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new …

D Karaer, AA Özçelik, K Karaer - Clinical EEG and …, 2025 - journals.sagepub.com
Background. This study aims to characterize the clinical phenotype of a family with two
siblings exhibiting neurological manifestations, utilizing whole exome sequencing (WES) to …

Experimental Zebrafish Models of Synaptopathies

AS Lebedev, MM Kotova, TO Kolesnikova… - Journal of Evolutionary …, 2023 - Springer
Synaptopathies represent a heterogeneous group of severe, debilitating neurological
diseases characterized by structural and functional synaptic deficits. Common …

Future Guides for Biomarkers for Autism Spectrum Disorders

MME Mustafa - Hail Journal of Health Sciences, 2024 - journals.lww.com
This review article explores the current landscape and future directions of biomarker
research in autism spectrum disorders (ASDs), a complex neurodevelopmental condition …

Computational investigation on the impact of point mutations on the N-terminal domain of SHANK3, indicating distinct synaptopathies in Autism spectrum disorder

HK Almaadani, VSK Mattaparthi - 2024 - nopr.niscpr.res.in
SHANK3 mutations are associated with a notable 1% of autism spectrum disorder (ASD).
Due to the cost and time associated with experimental polymorphism studies, in silico …