Evidence map›Paper›PMID 41000458›Full record

ArticleBMJ neurology open2025

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family.

Hinde El Mouhi, Badreddine Elmakhzen, Amina Bouyahyaoui, Mustapha Hida, Karim Ouldim, Laila Bouguenouch, Sana Chaouki

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ neurology open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

7 authors.

Hinde El MouhiLaboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Fez, Morocco.ORCID https://orcid.org/0000-0003-4787-3100
Badreddine ElmakhzenUnit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.
Amina BouyahyaouiUnit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.
Mustapha HidaPediatrics, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Fez, Morocco.
Karim OuldimUnit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.
Laila BouguenouchLaboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Fez, Morocco.
Sana ChaoukiLaboratory of Biomedical and Translational Research, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Fez, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Epilepsy-related ligand-receptor complex, leucine-rich glioma-inactivated 1 ( Objective: We present the case of Moroccan siblings with epileptic encephalopathy due to a homozygous variant within the Methods: We performed whole-exome sequencing and family segregation analysis to identify and confirm the genetic cause of the condition in the affected siblings. Results: The clinical features mimic Conclusion: This case highlights a homozygous

Indexed as

EPILEPSYGENETICSMOLECULAR BIOLOGYNEUROGENETICSPAEDIATRIC NEUROLOGY

Identifiers

PMID41000458
PMCPMC12458631

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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.