Evidence map›Paper›PMID 39724270›Full record

ArticleNeurogenetics2024

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Emine Karatas, Ayten Gulec, Maide Korkmaz, Zehra Filiz Karaman, Aslihan Kiraz, Huseyin Per, Munis Dundar

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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.

Emine KaratasDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Ayten GulecDepartment of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Maide KorkmazDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Zehra Filiz KaramanDepartment of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Aslihan KirazDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Huseyin PerDepartment of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Munis DundarDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. dundar@erciyes.edu.tr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism. We report a 7-year-old girl with early-onset epilepsy, severe neuromotor developmental delay and brain malformation. Whole exome analysis of the patient revealed c.1153C > T p.Gln385* nonsense homozygous likely pathogenic variant in CAMSAP1 gene and c.6867G > A p.Trp2289* nonsense heterozygous pathogenic de novo variant in NBEA gene. A small number of cases associated with these genes have been reported. We report the 8th case reported in the CAMSAP1 gene and the overlapping phenotype in these two genes.

Indexed as

BrainEpilepsyNeurodevelopmental DisordersPhenotypeChildExome SequencingFemaleHumansMicrotubule-Associated ProteinsMicrotubule-Associated ProteinsCAMSAP1NBEANeuromotor developmental delay, epilepsyOverlapping phenotypePachygyria

Identifiers

PMID39724270

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.