Evidence map›Paper›PMID 34046058›Full record

ArticleFrontiers in genetics2021

Deep-Phenotyping the Less Severe Spectrum of

Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov and 6 more

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

Article in Frontiers in genetics, 2021. 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
1.7field-weighted citation impact, top 15% 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, 9 citations in OpenAlex.

  1. Pooled it
  2. A Novel Homozygous Missense Variant ofInternational journal of molecular sciences · 2025
    Article
  3. Review
  4. 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

16 authors at 12 institutions in 5 countries.

Allan BayatInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Manuela PendziwiatDepartment of Neuropediatrics, Children's Hospital, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany.
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Paula GoldenbergDivision of Medical Genetics, Massachusetts General Hospital, Boston, MA, United States.
Pia ZacherThe Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
Jan Henje DöringDepartment of General Pediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Steffen SyrbeDepartment of General Pediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Amber BegtrupGeneDx, Gaithersburg, MD, United States.
Artem BorovikovResearch Centre for Medical Genetics, Moscow, Russia.
Artem SharkovVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.
Aneta KarasińskaDepartment of Dermatology, The Nicolas Copernicus State Hospital, Koszalin, Poland.
Maria GiżewskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Wendy MitchellDepartment of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.
Eva MoravaDepartment of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.
Rikke S MøllerInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Guido RubboliDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
University of Southern Denmark · DKEpilepsiezentrum Kleinwachau Gemeinnützige · DEHeidelberg University · DEKiel University · DEMassachusetts General Hospital · USMayo Clinic · USPirogov Russian National Research Medical University · RUPomeranian Medical University · PLResearch Centre for Medical Genetics · RUUniversity Hospital Heidelberg · DEUniversity of Copenhagen · DKUniversity of Southern California · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The two aims of this study were (i) to describe and expand the phenotypic spectrum of

Indexed as

developmental delaydisease severitygeneralized seizuresglycosylphosphatidylinositol biosynthesis defectsinherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiencymyoclonic-atonic seizures

Identifiers

PMID34046058
PMCPMC8148046
OpenAlexW3160012773

What Socratic 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 Socratic graph.