Evidence map›Paper›PMID 34568804›Full record

ArticleEpilepsy & behavior reports2021

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou and 10 more

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

Article in Epilepsy & behavior reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-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, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. GABAJournal of neurochemistry · 2024
    Review
  4. Genes · 2023
    Review
  5. Article
  6. 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

20 authors at 6 institutions in 2 countries.

Ioannis ZaganasNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Pelagia VorgiaNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Martha SpiliotiAHEPA General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Lambros MathioudakisNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Maria RaissakiDepartment of Radiology, University Hospital of Heraklion, Crete, Greece.
Stavroula IliaPediatric Intensive Care Unit, University Hospital of Heraklion, Crete, Greece.
Melpomeni GiorgiAttiko General Hospital, Athens, Greece.
Irene SkoulaNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Georgios ChinitrakisNeurology Department, University Hospital of Heraklion, Crete, Greece.
Kleita MichaelidouNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Evangelos ParaskevoulakosPediatric Neurology Department, Penteli Children's General Hospital, Athens, Greece.
Olga GrafakouPediatric Department, Venizelion General Hospital, Heraklio, Crete, Greece.
Chariklia KariniotakiNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Thekla PsyllouNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Spiros ZafeirisNeurology Department, University Hospital of Heraklion, Crete, Greece.
Maria TzardiPathology Department, Medical School, University of Crete, Greece.
George BriassoulisPediatric Intensive Care Unit, University Hospital of Heraklion, Crete, Greece.
Argirios DinopoulosAttiko General Hospital, Athens, Greece.
Panayiotis MitsiasNeurology Department, University Hospital of Heraklion, Crete, Greece.
Athanasios EvangeliouPapageorgiou General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
University of Crete · GRUniversity Hospital of Heraklion · GRAristotle University of Thessaloniki · GRHenry Ford Hospital · USPenteli General Children's Hospital · GRThe General Hospital of Heraklion "Venizeleio-Pananio" · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2-18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, were identified in 9 known epilepsy-related genes through whole exome sequencing. A patient with glycine encephalopathy was a compound heterozygote for the p.Arg222Cys and the p.Ser77Leu

Indexed as

EpilepsyGeneticsInherited epilepsyNext-generation sequencingWhole exome sequencing

Identifiers

PMID34568804
PMCPMC8449081
OpenAlexW3198475792

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.