Evidence map›Paper›PMID 42699991›Full record

ArticleCNS neuroscience & therapeutics2026

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.

Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu and 9 more

Abstract read
PubMed Full text at PMC Publisher
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Article in CNS neuroscience & therapeutics, 2026. 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
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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

19 authors.

Liya CuiDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Kaiyue MaBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory of Embryo Original Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.ORCID https://orcid.org/0009-0001-4302-3371
Xiaona FuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Lin GeDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0000-0002-6547-3242
Bingbing JiaDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Wenna MaDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Lei YangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0009-0000-8911-2030
Zhimei LiuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0000-0003-0393-7598
Junlan LvDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Wenmiao XuPediatric Intensive Care Unit, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Lijuan WangPediatric Intensive Care Unit, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Guangyuan ZhaoDepartment of Emergency, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0009-0000-0036-9922
Jiuwei LiDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Jie WuDepartment of Emergency, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0009-0004-6212-1753
Quan WangPediatric Intensive Care Unit, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Changhong DingDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Xiaotun RenDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Xinming ShenDepartment of Neurology, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Hui XiongDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID https://orcid.org/0000-0003-4138-2992

Funding

High Innovation Plan G202512059National Natural Science Foundation of China 82471430
6 · The paper itself

Abstract

aimsTo characterize the clinical, electrophysiological, and genetic spectrum of pediatric CMS and evaluate genotype-informed outcomes using an integrated phenotype-electrophysiology-genomics approach.

methodsWe retrospectively reviewed 36 pediatric CMS patients evaluated at a single center between 2015 and 2025. Clinical features, RNS, targeted NGS/WES variants, ventilator use, treatments, ACMG/AMP classifications, and MG-ADL outcomes were analyzed.

resultsOf 36 patients, 28 (77.8%) developed symptoms in the neonatal period or infancy. Biallelic variants involved 17 CMS genes; postsynaptic CMS was most common (55.6%, 20/36). COLQ and CHRNE were the most frequent genes (13.9%, 5/36 each), followed by CHAT (11.1%, 4/36). VUS were detected in 19 patients (52.8%, 19/36), including 8 with biallelic VUS supported by phenotype, neuromuscular transmission findings, treatment response, and follow-up. RNS showed a ≥ 10% decrement in 16/21 tested patients (76.2%). CHAT-CMS was associated with higher ventilator use (3/4 vs. 6/32; p = 0.041) and early mortality (3/4 vs. 1/32; p = 0.002). Median MG-ADL improved from 5 to 3 after genotype-informed therapy.

conclusionPediatric CMS shows marked genetic heterogeneity and frequent VUS-related uncertainty. Integrating phenotype, electrophysiology, and genomics supports diagnosis and mechanism-guided therapy. CHAT-CMS is high risk for early respiratory failure and mortality.

Indexed as

GenomicsMyasthenic Syndromes, CongenitalPhenotypeAdolescentChildChild, PreschoolChinaFemaleHumansInfantInfant, NewbornMaleRetrospective Studiescongenital myasthenic syndromegenotype‐guided therapyneuromuscular transmissionpediatric neuromuscular disordersrepetitive nerve stimulationvariants of uncertain significance

Identifiers

PMID42699991
PMCPMC13545678

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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.