Evidence map›Paper›PMID 39553263›Full record

ArticleBasic and clinical neuroscience

A Case Report of Parental Germline Mosaicism in the

Sahar Alijanpour, Soudeh Ghafouri-Fard, Seyed Hassan Tonekaboni, Parvaneh Karimzadeh, Farzad Ahmadabadi, Elham Rahimian, Samareh Panjeshahi, Mohammad Miryounesi

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In one paragraph

Article in Basic and clinical neuroscience. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Sahar AlijanpourDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0003-0734-6787
Soudeh Ghafouri-FardDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0002-0223-499X
Seyed Hassan TonekaboniDepartment of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0003-0853-8465
Parvaneh KarimzadehDepartment of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0002-6302-9973
Farzad AhmadabadiDepartment of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0002-8738-4398
Elham RahimianHaghighat Imaging and Research Center, Tehran, Iran.ORCID https://orcid.org/0000-0003-1120-9507
Samareh PanjeshahiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0002-4893-5644
Mohammad MiryounesiDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID https://orcid.org/0000-0003-4705-3794

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Developmental and epileptic encephalopathy 9 (DEE9) is caused by pathogenic variants in the Methods: Here, we report two additional female patients with DEE9 who are siblings. After analyzing karyotype testing results, whole-exome sequencing (WES) was performed for the proband. Then, Sanger sequencing was carried out for proband, her affected sister, and parents. Results: Sequencing results revealed that our two patients had a heterozygous frameshift variant (NM_001184880.2: c.1091delC, p.P364Rfs*4) in the Conclusion: This is the first report of germline mosaicism in the

Indexed as

Developmental and epileptic encephalopathy 9 (DEE9)EpilepsyGeneticGermline mosaicismPCDH19

Identifiers

PMID39553263
PMCPMC11565664

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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.