Evidence map›Paper›PMID 30083360›Full record

ArticleHuman genome variation2018

A recurrent homozygous

Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, Tomofumi Fukuda, Mitsuhiro Kato, Mitsuko Nakashima, Naomichi Matsumoto, Hirotomo Saitsu

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

Article in Human genome variation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 26% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
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

8 authors at 5 institutions in 1 country.

Nami ArayaNational Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan.
Yukitoshi TakahashiNational Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan.
Masayuki Shimono2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.
Tomofumi Fukuda2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.
Mitsuhiro Kato3Department of Pediatrics, School of Medicine, Showa University, Tokyo, Japan.
Mitsuko Nakashima4Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Naomichi Matsumoto4Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Hirotomo Saitsu5Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID 0000-0003-0723-0960
National Epilepsy Center · JPUniversity of Occupational and Environmental Health Japan · JPYokohama City University · JPHamamatsu University · JPShowa University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the

Identifiers

PMID30083360
PMCPMC6043589
OpenAlexW2818957859

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.