Evidence map›Paper›PMID 30564977›Full record

ArticleNeurogenetics2019

Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.

Yukiko Hata, Koji Yoshida, Naoki Nishida

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024
    Review
  2. 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

3 authors at 2 institutions in 1 country.

Yukiko HataDepartment of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.
Koji YoshidaDepartment of Neurology, Toyama University Hospital, Toyama, Japan.
Naoki NishidaDepartment of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. nishida@med.u-toyama.ac.jp.ORCID 0000-0002-6921-1768
University of Toyama · JPHyogo Brain and Heart Center · JP

Funding

Japan Society for the Promotion of Science JP17k09263Japan Society for the Promotion of Science JP18k10119Uehara Memorial Foundation not assigned
6 · The paper itself

Abstract

Progressive myoclonus epilepsy-ataxia syndrome (EPM5) is an autosomal recessive form of progressive myoclonus epilepsy that has been associated with a homozygous missense mutation in PRICKLE1. We report a 23-year-old male who died shortly after refractory convulsion and respiratory failure. Autopsy showed unilateral hippocampal malformation without significant neuronal loss or gliosis. Genetic analysis that targeted both epilepsy and cardiac disease using next-generation sequencing revealed two variants of PRICKLE1. Additional investigation showed that the patient's father (p.Asp760del) and mother (p.Asp201Asn) each had a mutation in this gene. The present case shows that EPM5 can also be caused by compound heterozygous mutations.

Indexed as

AutopsyBrainDeath, SuddenHigh-Throughput Nucleotide SequencingHomozygoteHumansLIM Domain ProteinsMaleMutationMyoclonic Epilepsies, ProgressivePedigreeTumor Suppressor ProteinsYoung AdultLIM Domain ProteinsPRICKLE1 protein, humanTumor Suppressor ProteinsCompound heterozygous mutationHippocampusNeuropathologyPRICKLE1Progressive myoclonus epilepsySudden death

Identifiers

PMID30564977
OpenAlexW2904772328

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.