Evidence map›Paper›PMID 38316952›Full record

ArticleEuropean journal of human genetics : EJHG2024

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.

Mahmoud Koko, Maha A Elseed, Inaam N Mohammed, Ahlam A Hamed, Amal S I Abd Allah, Ashraf Yahia, Rayan A Siddig, Janine Altmüller, Mohammad Reza Toliat, Esra O Elmahdi and 17 more

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In one paragraph

Article in European journal of human genetics : EJHG, 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. Neurology. Genetics · 2025
    Article
  2. Genomic testing in Low- and Middle-Income Countries (LMIC).European journal of human genetics : EJHG · 2024
    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

27 authors.

Mahmoud KokoDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-9512-0184
Maha A ElseedDepartment of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Inaam N MohammedDepartment of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID 0000-0003-1893-8286
Ahlam A HamedDepartment of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Amal S I Abd AllahNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Ashraf YahiaDepartment of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID 0000-0002-0376-8264
Rayan A SiddigNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Janine AltmüllerCologne Center for Genomics, University of Cologne, Cologne, Germany.
Mohammad Reza ToliatCologne Center for Genomics, University of Cologne, Cologne, Germany.ORCID 0000-0002-9248-3200
Esra O ElmahdiNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Mutaz AminDepartment of Biochemistry, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.
Elhami A AhmedUNESCO Chair on Bioethics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID 0000-0002-0386-0845
Isra Z M EltaziDepartment of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Fatima A ElmugadamNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Wasma A AbdelgadirDepartment of Biochemistry and Molecular Biology, Faculty of Sciences and Technology, Al-Neelain University, Khartoum, Sudan.ORCID 0000-0003-0971-968X
Esraa EltaraifeeNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Mohamed O M IbrahimDepartment of Biochemistry, Faculty of Medicine, Sudan University of Science and Technology, Khartoum, Sudan.ORCID 0000-0002-1452-1654
Nabila M H AliNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Hiba M MalikNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Arwa M BabaiNeurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Yousuf H BakhitDepartment of Neurology, Neurobiology Division, University Hospital Bonn, Bonn, Germany.
Peter NürnbergCologne Center for Genomics, University of Cologne, Cologne, Germany.
Muntaser E IbrahimDepartment of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
Mustafa A SalihDivision of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0002-4379-2111
Julian SchubertDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Liena E O ElsayedDepartment of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, P.O.Box 84428, Riyadh, 11671, Saudi Arabia. leelsayed@pnu.edu.sa.ORCID 0000-0001-5753-6760
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-1783-8710

Funding

Deutsche Forschungsgemeinschaft (German Research Foundation) Le1030/16-1Deutsche Forschungsgemeinschaft (German Research Foundation) Le1030/16-2KSU | College of Medicine, King Saud University RSP-2020/38Princess Nourah Bint Abdulrahman University (Princess Nora University) PNURSP2022R172
6 · The paper itself

Abstract

Heterozygous PRRT2 variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability. In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy. We evaluated both dominant and recessive inheritance using whole exome sequencing and genomic arrays. We identified a pathogenic homozygous splice-site variant in the first intron of PRRT2 [NC_000016.10(NM_145239.3):c.-65-1G > A] that segregated with the phenotype in this family. This work taps into the genetics of epilepsy in an underrepresented African population and suggests that the phenotypes of homozygous PRRT2 variants may include milder epilepsy presentations without movement disorders.

Indexed as

Membrane ProteinsNerve Tissue ProteinsPedigreeAllelesChildChild, PreschoolEpilepsyFemaleHomozygoteHumansInfantMaleMutationPhenotypeMembrane ProteinsNerve Tissue ProteinsPRRT2 protein, human

Identifiers

PMID38316952
PMCPMC11500335

What OpenQuestion holds

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Registered trials

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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.