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From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey.

Genes - 25 Jun 2024

Nabavi Nouri Maryam, Alandijani Lama, van Engelen Kalene, Tole Soumitra, Lalonde Emilie, Balci Tugce B

Abstract excerpt

Introduction: The NPRL3 gene is a critical component of the GATOR1 complex, which negatively regulates the mTORC1 pathway, essential for neurogenesis and brain development. Located on chromosome 16p13.3, NPRL3 is situated near the α-globin gene cluster. Haploinsufficiency of NPRL3, either by deletion or a pathogenic variant, is associated with a variable phenotype of focal epilepsy, with or without malformations...

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Identifiers

PMID: 39062615
DOI: 10.3390/genes15070836
PMCID: PMC11275569

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