Evidence map›Paper›PMID 31672125›Full record

ArticleBMC pediatrics2019

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.

Kao-Min Lin, Geng Su, Fengpeng Wang, Xiaobin Zhang, Yuanqing Wang, Jun Ren, Xin Wang, Yi Yao, Ying Zhou

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

Article in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
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 at 4 institutions in 1 country.

Kao-Min LinDepartment of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
Geng SuDepartment of Neurosurgery, The People's Hospital of Rizhao, Jining Medical University, Rizhao, 276826, Shandong, China.
Fengpeng WangDepartment of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
Xiaobin ZhangDepartment of Functional Neurosurgery, Xiamen Humanity Hospital, Xiamen, 361000, Fujian, China.
Yuanqing WangNeuromedicine Center, the 174th Hospital of Chinese People's Liberation Army, Affiliated Chenggong Hospital of Xiamen University, Xiamen, 361004, Fujian, China.
Jun RenNational Institute for Data Science in Health and Medicine, School of Information Science and Engineering, Xiamen University, Xiamen, 361101, Fujian, China.
Xin WangFujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, School of Medicine, Xiamen University, Xiamen, 361102, Fujian, China. wangx@xmu.edu.cn.
Yi YaoDivision of Epilepsy Surgery, Shenzhen Children's Hospital, No.7019 Yi-tian Road, Fu-tian District, Shenzhen, 518026, Guangdong, China. yaoyiseepi@126.com.
Ying ZhouNational Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University, 4221-120 South Xiang'an Road, Xiang'an District, Xiamen, 361102, Fujian, China. yingzhou@xmu.edu.cn.ORCID 0000-0001-8276-2735
Xiamen University · CNUnion Hospital · CNPeople’s Hospital of Rizhao · CNShenzhen Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundEpilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. CASE PRESENTATION: Using parent-offspring trio targeted-exome sequencing, we identified a de novo heterozygous missense mutation c.3953A > G (p.N1318S) in SCN8A in a 3-year-and-9-month Chinese female patient with early infantile epileptic encephalopathy and a normal magnetic resonance imaging of the brain.

conclusionsThis de novo mutation was only detected in the patient but not in her parents. Bioinformatic analysis indicates the pathogenicity of this mutation. Administration of the sodium channel blocker well controlled seizures in the patient. Therefore, we recommend trio targeted-exome sequencing as a routine method for pathogenic variant screening in patients with intractable epilepsy and a normal MRI.

Indexed as

Child, PreschoolDrug Resistant EpilepsyExome SequencingFemaleHigh-Throughput Nucleotide SequencingHumansMagnetic Resonance ImagingMutation, MissenseNAV1.6 Voltage-Gated Sodium ChannelPositron-Emission TomographySpasms, InfantileNAV1.6 Voltage-Gated Sodium ChannelSCN8A protein, humanEpileptic encephalopathyMissense mutationSCN8ATargeted exome sequencing

Identifiers

PMID31672125
PMCPMC6824109
OpenAlexW2983602993

What OpenQuestion holds

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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.