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Bi-allelic PRRT2variants may predispose to Self-limited Familial Infantile Epilepsy
- Source :
- European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-5, 5p
- Publication Year :
- 2024
-
Abstract
- Heterozygous PRRT2variants 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 PRRT2variants may include milder epilepsy presentations without movement disorders.
Details
- Language :
- English
- ISSN :
- 10184813 and 14765438
- Issue :
- Preprints
- Database :
- Supplemental Index
- Journal :
- European Journal of Human Genetics: EJHG
- Publication Type :
- Periodical
- Accession number :
- ejs65429686
- Full Text :
- https://doi.org/10.1038/s41431-024-01541-x