Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy - PubMed
4 hours ago
- #NPRL3-related epilepsy
- #splice variants
- #genetic heterogeneity
- NPRL3-related epilepsy (NRE) is a GATORopathy with genetic and clinical heterogeneity, featuring incomplete penetrance and phenotypic variability.
- Two Chinese pediatric patients with inherited NPRL3 splice variants (c.924+1G>A and c.925-1G>C) from asymptomatic mothers had seizure onset at 1-2 years, with normal neuroimaging and response to antiepileptic drugs.
- A literature review of 94 NPRL3 variants in 107 cases showed an estimated penetrance of 76%, predominance of loss-of-function variants (83%), and rare splice variants (13%), with no clear genotype-phenotype correlations.
- The study underscores the importance of considering NPRL3 variants in familial and sporadic epilepsy and tailoring antiepileptic management due to the variability in clinical presentation.