Brain structure abnormalities in neurodevelopmental synaptopathies.

doi:10.1016/j.nicl.2026.104038

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Brain structure abnormalities in neurodevelopmental synaptopathies.

NeuroImage. Clinical - 1 Jan 2026

Romagosa-Perez Júlia, Ribeiro-Constante Juliana, Julià-Palacios Natalia Alexandra, Darling Alejandra, Marí-Vico Rosanna, Valls-Esteve Arnau, Olivella Mireia, Altafaj Xavier, Stephan-Otto Christian, García-Cazorla Angeles

Abstract excerpt

Advanced brain imaging studies have been scarcely reported in neurodevelopmental encephalopathies. In this study we assess structural brain alterations in three rare neurogenetic disorders primarily affecting glutamatergic neurotransmission, aiming to identify shared and disease-specific neuroanatomical patterns and their clinical correlations. A cohort of patients with SYNGAP1 (n = 19), GRIN gene family...

Read the complete abstract on PubMed

Topics

Humans
Female
Male
Brain
Magnetic Resonance Imaging
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adolescent

ras GTPase-Activating Proteins

Munc18 Proteins

Neurodevelopmental Disorders

Adult

Young Adult

Child, Preschool

Cohort Studies

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42485845
DOI: 10.1016/j.nicl.2026.104038
PMCID: PMC13396952

Genes

STXBP1
SYNGAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Brain structure abnormalities in neurodevelopmental synaptopathies.PMID 42485845Read ↗

Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.Semantic proximity Read ↗

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.Semantic proximity Read ↗

Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.Semantic proximity Read ↗

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.Semantic proximity Read ↗

MRI Characterization of Structural Brain Abnormalities in NGLY1 DeficiencySemantic proximity Read ↗

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.Semantic proximity Read ↗

Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.Semantic proximity Read ↗

Common genetic variants influence human subcortical brain structures.Semantic proximity Read ↗

Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndromeSemantic proximity Read ↗

Cortical and subcortical morphological alteration in Angelman syndromeSemantic proximity Read ↗

Progressive neuroanatomical changes caused by Grin1 loss-of-function mutationSemantic proximity Read ↗

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.