Evidence map›Paper›PMID 40879121›Full record

ArticleAnnals of neurology2025

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia.

Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Nathan RoutledgeDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0009-0001-2080-5901
Maxime LammensMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.
Reza MaroofianDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Bakht BelandDepartment of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.
David MurphyDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Asif MirDepartment of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.
Zia UllahTimergara Teaching Hospital, Timergara, Pakistan.
Javeria Reza AlviDepartment of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.
Tipu SultanDepartment of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom.ORCID 0000-0003-4900-9877
Frank BosmansMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Ghent University, Ghent, Belgium.
Henry HouldenDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom.

Funding

Alzheimer's Research TrustCerebral Palsy Alliance Research FoundationDolby Family VenturesEANFriedreich's Ataxia Research AllianceFWO fundamental research fellowship 1125923NMultiple System Atrophy CoalitionMultiple System Atrophy TrustParkinson's Disease SocietyParkinson's FoundationQueen Square BrainBankRosetrees TrustThe Fidelity TrustThe Guarantors of BrainThe Medical Research CouncilThe Medical Research Council Brainbank NetworkThe Michael J Fox FoundationThe National Institute for Health Research University College London Hospitals Biomedical Research Centre NIHR-BRCThe NIH NeuroBioBankThe Wellcome TrustVictoria Brain BankWellcome Trust
6 · The paper itself

Abstract

SCN3B encodes the β3 auxiliary subunit, essential for voltage-gated Na

Indexed as

AtaxiaEpilepsyNAV1.3 Voltage-Gated Sodium ChannelNeurodevelopmental DisordersAdolescentAllelesChildChild, PreschoolDevelopmental DisabilitiesFemaleHumansIntellectual DisabilityMaleMutationPakistanPedigreeNAV1.3 Voltage-Gated Sodium Channel

Identifiers

PMID40879121
PMCPMC12542317

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.