Evidence map›Paper›PMID 35232915›Full record

ReviewZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2021

New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.

Qiong Xi, Lu Yi, Wenjuan Zhou, Jia Chen, Zuocheng Yang

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2021. 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
0.1field-weighted citation impact, top 54% of its field
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, 1 citations in OpenAlex.

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

5 authors at 1 institution in 1 country.

Qiong XiDepartment of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China. xiqiong520@163.com.
Lu YiDepartment of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China. cross10232000@aliyun.com.
Wenjuan ZhouDepartment of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Jia ChenDepartment of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Zuocheng YangDepartment of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China. yang_zcr@126.com.
Third Xiangya Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe neonatal episodic laryngospasm (SNEL) is an ion channel disease characterized by recurrent life-threatening myotonia of respiratory muscle due to mutations in the voltage-gated sodium channel genes. Here we reported a newborn manifested as paroxysmal cyanosis and limb myotonia after birth. The neonate also developed muscle hypertrophy and stunted growth during the follow-up. Whole exome sequencing confirmed c.2395G>A, p.Ala799Thr heterozygous mutation of SCN4A

Indexed as

LaryngismusMutation, MissenseHeterozygoteHumansInfant, NewbornMutationNAV1.4 Voltage-Gated Sodium ChannelPhenotypeNAV1.4 Voltage-Gated Sodium ChannelSCN4A protein, humanchannelopathymyotoniaSCN4A genesodium channel

Identifiers

PMID35232915
PMCPMC10930570
OpenAlexW4214835197

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.