Evidence map›Paper›PMID 42644177›Full record

ArticleFrontiers in genetics2026

SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case.

Jing Chen, Shuang Chen, Xin-Yi Zhu, Wei Su, Wen-Han Zhang, Dan Gao, Zhi-Sheng Liu, Jing-Jing Li, Hong-Min Zhu

Abstract read
In one paragraph

Article in Frontiers in genetics, 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

9 authors.

Jing Chen *Wuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Shuang Chen *Wuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xin-Yi Zhu *Wuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Wei SuPediatric Gastroenterology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Wen-Han ZhangDepartment of Radiology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Dan GaoWuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Zhi-Sheng LiuDepartment of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Jing-Jing LiWuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Hong-Min ZhuWuhan Children's Hospital Pediatric Rehabilitation Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant recurrent focal neuropathy characterized by acute episodes of severe neuropathic pain followed by muscle weakness and atrophy, most commonly affecting the brachial plexus. Pathogenic variants in Methods: Pathogenic variants were identified by whole-exome sequencing (WES) of the proband and confirmed by Sanger sequencing in available relatives. Results: We report a three-generation Chinese pedigree harboring the Discussion: This report delineates the broad clinical spectrum associated with the

Indexed as

hereditary neuralgic amyotrophypain episodesrehabilitationSeptin9variable expressivity

Identifiers

PMID42644177
PMCPMC13506161

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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.