Evidence map›Paper›PMID 40508110›Full record

ArticleInternational journal of molecular sciences2025

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

Ruqaiah AlTassan, Hanan AlQudairy, Biam Saydo, Aseel Alammari, Kelly J Cardona Londoño, Khushnooda Ramzan, Dilek Colak, Stefan T Arold, Namik Kaya

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 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

9 authors.

Ruqaiah AlTassanDepartment of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Hanan AlQudairyTranslational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Biam SaydoCollege of Medicine, AlFaisal University, Riyadh 11533, Saudi Arabia.
Aseel AlammariTranslational Genomic Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Kelly J Cardona LondoñoKAUST Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
Khushnooda RamzanClinical Genomics Department, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Dilek ColakMolecular Oncology Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.ORCID 0000-0001-6485-8768
Stefan T AroldKAUST Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.ORCID 0000-0001-5278-0668
Namik KayaCollege of Medicine, AlFaisal University, Riyadh 11533, Saudi Arabia.ORCID 0000-0001-8912-7507

Funding

King Salman Center for Disability Research KSCDR-RAC: 2180 004.
6 · The paper itself

Abstract

SEC31A-related neurodevelopmental disorder (Halperin-Birk syndrome) was recently identified in two siblings who shared the phenotype of profound developmental delay, structural brain defects, spastic quadriplegia with multiple contractures, seizures, dysmorphism, and optic nerve atrophy. Both patients died during childhood. In this study, we identified an additional patient who suffers from global developmental delay and seizures. Genetic analysis inclusive of whole exome and genome sequencing identified a homoallelic variant in the

Indexed as

Neurodevelopmental DisordersVesicular Transport ProteinsChild, PreschoolHumansMaleMutationPhenotypeProtein Interaction MapsVesicular Transport ProteinsCOPIIcorpus callosum hypogenesisneurodevelopmental disorderSEC31Aseizure disorder

Identifiers

PMID40508110
PMCPMC12155280

What OpenQuestion holds

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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 OpenQuestion graph.