Evidence map›Paper›PMID 39596051›Full record

ReviewInternational journal of molecular sciences2024

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

Giovanna Scorrano, Ludovica Di Francesco, Armando Di Ludovico, Francesco Chiarelli, Sara Matricardi

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Giovanna ScorranoDepartment of Pediatrics, University of Chieti-Pescara, Sant'Annunziata Hospital, 66100 Chieti, Italy.
Ludovica Di FrancescoDepartment of Neonatology, University of L'Aquila, San Salvatore Hospital, 67100 L'Aquila, Italy.ORCID 0000-0002-3889-1318
Armando Di LudovicoDepartment of Pediatrics, University of Chieti-Pescara, Sant'Annunziata Hospital, 66100 Chieti, Italy.ORCID 0000-0002-2644-1475
Francesco ChiarelliDepartment of Pediatrics, University of Chieti-Pescara, Sant'Annunziata Hospital, 66100 Chieti, Italy.
Sara MatricardiDepartment of Pediatrics, University of Chieti-Pescara, Sant'Annunziata Hospital, 66100 Chieti, Italy.ORCID 0000-0002-4403-6342

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent years, next-generation sequencing (NGS) technologies allowed the identification of several gene pathogenic variants etiologically related to these disorders in a large cohort of affected children. These genes encode proteins involved in synaptic homeostasis, such as SNARE proteins, implicated in calcium-triggered pre-synaptic release of neurotransmitters, or channel subunit proteins, such as post-synaptic ionotropic glutamate receptors involved in the brain's fast excitatory neurotransmission. In this narrative review, we dissected emerged molecular mechanisms related to NDDs and epilepsy due to defects in pre- and post-synaptic transmission. We focused on the most recently discovered SNAREopathies and AMPA-related synaptopathies.

Indexed as

EpilepsySynaptic TransmissionAnimalsAutism Spectrum DisorderChildHumansNeurodevelopmental DisordersSNARE ProteinsSynapsesSNARE Proteinsgeneticsneurodevelopmentneurotransmitter releasesynaptopathies

Identifiers

PMID39596051
PMCPMC11593774

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.