Evidence map›Paper›PMID 41762326›Full record

ArticleJournal of molecular neuroscience : MN2026

Cognitive and Motor Dysfunction in STXBP1 R406H Mice.

Hua Liu, Ya-Ze Duan, Shang Li, Yi Hu, Xiao Mao, Yong Cheng

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Article in Journal of molecular neuroscience : MN, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

6 authors.

Hua LiuNHC Key Laboratory of Birth Defect for Research and Prevention (Hunan Provincial Maternal and Child Health Care Hospital), Changsha, 410008, Hunan, China.
Ya-Ze DuanCenter on Translational Neuroscience, College of Life and Environmental Sciences, Minzu University of China, Haidian District, Beijing, 100081, China.
Shang LiCenter on Translational Neuroscience, College of Life and Environmental Sciences, Minzu University of China, Haidian District, Beijing, 100081, China.
Yi HuNHC Key Laboratory of Birth Defect for Research and Prevention (Hunan Provincial Maternal and Child Health Care Hospital), Changsha, 410008, Hunan, China.
Xiao MaoNHC Key Laboratory of Birth Defect for Research and Prevention (Hunan Provincial Maternal and Child Health Care Hospital), Changsha, 410008, Hunan, China. gbtechies@outlook.com.
Yong ChengNHC Key Laboratory of Birth Defect for Research and Prevention (Hunan Provincial Maternal and Child Health Care Hospital), Changsha, 410008, Hunan, China. yongcheng@muc.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The STXBP1 protein critically regulates synaptic vesicle fusion and neurotransmitter release, with its mutations implicated in neurodevelopmental disorders. STXBP1 R406H can lead to the occurrence of early-onset epileptic encephalopathy (EOEE). To better elucidate the molecular mechanisms underlying pathogenesis,we generated an STXBP1 R406H mutation mouse model that recapitulated key cognitive-social deficits observed in patients. Behavioral and transcriptomic analyses revealed synaptic impairments and glial activation in mutant mice. Specifically, there is abnormal expression of synaptic proteins in hippocampal neurons, which are correlated with cognitive and motor deficits. Our study establishes that the STXBP1 R406H mutation drives neurodevelopmental pathology via excitatory synaptic dysfunction, offering new mechanistic insights and therapeutic avenues for the treatment of STXBP1-related disorders.

Indexed as

Munc18 ProteinsAnimalsHippocampusMiceMutationNeuronsMunc18 ProteinsStxbp1 protein, mouseHippocampal neuronsSTXBP1STXBP1 R406H mutationSynaptic development

Identifiers

PMID41762326

What OpenQuestion holds

Textmetadata
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.