Evidence map›Paper›PMID 35620139›Full record

ArticleNeurology. Genetics2022

A New Case With Cortical Malformation Caused by Biallelic Variants in

Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Novel HomozygousLife (Basel, Switzerland) · 2026
    Article
  2. Article
  3. 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 1 institution in 1 country.

Kazuo AbeDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.ORCID https://orcid.org/0000-0001-6262-4378
Kumiko AndoDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.
Mitsuhiro KatoDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.ORCID https://orcid.org/0000-0003-1485-8553
Hirotomo SaitsuDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.ORCID https://orcid.org/0000-0003-0723-0960
Mitsuko NakashimaDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.ORCID https://orcid.org/0000-0001-7941-1774
Shintaro AokiDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.
Takashi KimuraDepartment of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.
Showa University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 ( Methods: Exome sequencing. Results: Genetic analyses revealed new biallelic variants in the Discussion: Patients with

Identifiers

PMID35620139
PMCPMC9128070
OpenAlexW4281388731

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.