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

Koko, Mahmoud ; Elseed, Maha A. ; Mohammed, Inaam N. ; Hamed, Ahlam A. ; Abd Allah, Amal S.I. ; Yahia, Ashraf LU orcid ; Siddig, Rayan A. ; Altmüller, Janine ; Toliat, Mohammad Reza and Elmahdi, Esra O. , et al. (2024) In European Journal of Human Genetics 32(10). p.1338-1342
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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
in
European Journal of Human Genetics
volume
32
issue
10
pages
1338 - 1342
publisher
Nature Publishing Group
external identifiers
  • pmid:38316952
  • scopus:85184208904
ISSN
1018-4813
DOI
10.1038/s41431-024-01541-x
language
English
LU publication?
no
additional info
Publisher Copyright: © The Author(s), under exclusive licence to European Society of Human Genetics 2024.
id
4d238b1a-7577-41d6-a2cb-db5552524823
date added to LUP
2026-06-05 10:29:52
date last changed
2026-06-19 11:49:09
@article{4d238b1a-7577-41d6-a2cb-db5552524823,
  abstract     = {{<p>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 &gt; 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.</p>}},
  author       = {{Koko, Mahmoud and Elseed, Maha A. and Mohammed, Inaam N. and Hamed, Ahlam A. and Abd Allah, Amal S.I. and Yahia, Ashraf and Siddig, Rayan A. and Altmüller, Janine and Toliat, Mohammad Reza and Elmahdi, Esra O. and Amin, Mutaz and Ahmed, Elhami A. and Eltazi, Isra Z.M. and Elmugadam, Fatima A. and Abdelgadir, Wasma A. and Eltaraifee, Esraa and Ibrahim, Mohamed O.M. and Ali, Nabila M.H. and Malik, Hiba M. and Babai, Arwa M. and Bakhit, Yousuf H. and Nürnberg, Peter and Ibrahim, Muntaser E. and Salih, Mustafa A. and Schubert, Julian and Elsayed, Liena E.O. and Lerche, Holger}},
  issn         = {{1018-4813}},
  language     = {{eng}},
  number       = {{10}},
  pages        = {{1338--1342}},
  publisher    = {{Nature Publishing Group}},
  series       = {{European Journal of Human Genetics}},
  title        = {{Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy}},
  url          = {{http://dx.doi.org/10.1038/s41431-024-01541-x}},
  doi          = {{10.1038/s41431-024-01541-x}},
  volume       = {{32}},
  year         = {{2024}},
}