Evidence map›Paper›PMID 33794876›Full record

ArticleBMC medical genomics2021

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.

Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen, Xuqin Chen

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2021. 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
0.5field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Diseases (Basel, Switzerland) · 2026
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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

10 authors at 2 institutions in 1 country.

Danping Huang *Department of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Min Liu *Department of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Hongying WangDepartment of Laboratory, Children's Hospital of Soochow University, Soochow, Jiangsu, China.
Bingbing ZhangDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Dongjing ZhaoDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Weihao LingDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Manli WangDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Jun FengDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China.
Yiping ShenGenetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, No. 225 Xinyang Street, Nanning, 530000, Guangxi, China. yiping.shen@childrens.harvard.edu.
Xuqin ChenDepartment of Neurology, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Soochow, 215000, Jiangsu, China. xuqinlili@163.com.
Soochow University · CNGuangxi Maternal and Child Health Hospital · CN

Funding

Special project of diagnosis and treatment technology for key clinical diseases in Suzhou LCZX201810the 15th batch of six talent peak training funds in Jiangsu Province WSN-028the Key special program funds of Jiangsu Province BE2018661
6 · The paper itself

Abstract

backgroundATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. CASE PRESENTATION: We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both patients presented with episodes of alternating hemiplegia, seizures and mild developmental delay. Brain magnetic resonance imaging revealed abnormal signals in both patients.

conclusionsThe new genetic evidence we reported here strengthened the gene-disease relationship, and the gene curation level between ATP1A2 and AHC became "Moderate" following the ClinGen Standard Operation Procedure. Consequently, the two variants can be reclassified as likely pathogenic.

Indexed as

HemiplegiaSodium-Potassium-Exchanging ATPaseAsian PeopleChild, PreschoolChinaGenetic Association StudiesHumansInfantMagnetic Resonance ImagingMaleMutationATP1A2 protein, humanSodium-Potassium-Exchanging ATPaseAlternating hemiplegia of childhoodATP1A2De novoVariant classification

Identifiers

PMID33794876
PMCPMC8017680
OpenAlexW3149482220

What OpenQuestion holds

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LicenceCC BY
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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.