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

Item Type:Article
Title:Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
Creators Name:Koko, M. and Elseed, M.A. and Mohammed, I.N. and Hamed, A.A. and Abd Allah, A.S.I. and Yahia, A. and Siddig, R.A. and Altmüller, J. and Toliat, M.R. and Elmahdi, E.O. and Amin, M. and Ahmed, E. A. and Eltazi, I.Z.M. and Elmugadam, F.A. and Abdelgadir, W.A. and Eltaraifee, E. and Ibrahim, M.O.M. and Ali, N.M.H. and Malik, H.M. and Babai, A.M. and Bakhit, Y.H. and Nürnberg, P. and Ibrahim, M.E. and Salih, M.A. and Schubert, J. and Elsayed, L.E.O. and Lerche, H.
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.
Source:European Journal of Human Genetics
Publisher:Nature Publishing Group
Date:5 February 2024
Official Publication:https://doi.org/10.1038/s41431-024-01541-x
PubMed:View item in PubMed

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