Evidence map›Paper›PMID 36231847›Full record

ArticleInternational journal of environmental research and public health2022

Exome Sequencing in an ADSHE Family: VUS Identification and Limits.

Chiara Villa, Federica Arrigoni, Eleonora Rivellini, Marialuisa Lavitrano, Luca De Gioia, Luigi Ferini-Strambi, Romina Combi

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

Article in International journal of environmental research and public health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 82% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. NovelFrontiers in neuroscience · 2025
    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

7 authors at 2 institutions in 1 country.

Chiara VillaSchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.ORCID 0000-0003-2730-5974
Federica ArrigoniDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy.
Eleonora RivelliniSchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Marialuisa LavitranoSchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.ORCID 0000-0003-4852-1318
Luca De GioiaDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, 20126 Milan, Italy.
Luigi Ferini-StrambiDepartment of Clinical Neurosciences, Neurology-Sleep Disorder Center, IRCCS San Raffaele Scientific Institute, 20127 Milan, Italy.
Romina CombiSchool of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.ORCID 0000-0003-1742-6078
University of Milano-Bicocca · ITVita-Salute San Raffaele University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is the familial form of a focal epilepsy characterized by hyperkinetic focal seizures, mainly arising during non-rapid eye movements (NREM) sleep. Mutations associated with ADSHE account for a small proportion of the genetically determined cases, suggesting the existence of other disease-causing genes. Here, we reported the results obtained by performing trio-based whole-exome sequencing (WES) in an Italian family showing ADSHE and investigated the structural impact of putative variants by in silico modeling analysis. We identified a p.(Trp276Gly) variant in

Indexed as

EpilepsyExomeExome SequencingHumansMutationPedigreeADSHEepilepsygenemutation

Identifiers

PMID36231847
PMCPMC9565017
OpenAlexW4303696678

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.