Evidence map›Paper›PMID 38898886›Full record

ReviewTherapeutic advances in rare disease

STXBP1: fast-forward to a brighter future - a patient organization perspective.

James R Goss, Benjamin Prosser, Ingo Helbig, Charlene Son Rigby

Abstract readReview
In one paragraph

Review in Therapeutic advances in rare disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Cognitive and Motor Dysfunction in STXBP1 R406H Mice.Journal of molecular neuroscience : MN · 2026
    Article
  3. Review
  4. Article
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

4 authors.

James R GossSTXBP1 Foundation, PO Box 1148, Holly Springs, NC 27540, USA.ORCID https://orcid.org/0000-0002-7376-8059
Benjamin ProsserDepartment of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ingo HelbigDivision of Neurology, Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Charlene Son RigbySTXBP1 Foundation, Holly Springs, NC, USA.

Funding

A computational phenotyping approach to characterize neurogenetic disordersR01NS131512 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
Subgroup delineation in genetic epilepsies and developmental brain disordersR01NS127830 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
Joint analysis of genomic and electronic medical record data to assess outcomes and drug response in pediatric epilepsiesK02NS112600 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI HELBIG, INGO · 2020 to 2024
$963k
NINDS NIH HHS K02 NS112600NINDS NIH HHS R01 NS127830NINDS NIH HHS R01 NS131512
6 · The paper itself

Abstract

Syntaxin-binding protein 1 related disorder (STXBP1-RD) is a rare neurologic disorder associated with global neurodevelopmental delay, intellectual disability, early-onset epilepsy, motor abnormalities, and autism. The underlying pathophysiology stems from a

Indexed as

biomarkersneurodevelopmental disorderpatient advocacy groupprecision medicinesynaptopathy

Identifiers

PMID38898886
PMCPMC11186390

What OpenQuestion holds

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LicenceCC BY-NC
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 OpenQuestion graph.