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

doi:10.1038/s41431-024-01541-x

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Article

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

European journal of human genetics : EJHG - 1 Oct 2024

Koko Mahmoud, Elseed Maha A, Mohammed Inaam N, Hamed Ahlam A, Abd Allah Amal S I, Yahia Ashraf, Siddig Rayan A, Altmüller Janine, Toliat Mohammad Reza, Elmahdi Esra O, Amin Mutaz, Ahmed Elhami A, Eltazi Isra Z M, Elmugadam Fatima A, Abdelgadir Wasma A, Eltaraifee Esraa, Ibrahim Mohamed O M, Ali Nabila M H, Malik Hiba M, Babai Arwa M, Bakhit Yousuf H, Nürnberg Peter, Ibrahim Muntaser E, Salih Mustafa A, Schubert Julian, Elsayed Liena E O, Lerche Holger

Abstract excerpt

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...

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PMID: 38316952
DOI: 10.1038/s41431-024-01541-x
PMCID: PMC11500335

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PRRT2

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