Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

ABSTRACT:

Objective

NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature.

Methods

Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings. Variant segregation analysis was performed by Sanger sequencing. All previously published NRE patients were thoroughly reviewed and their electroclinical features were analyzed and compared with the reported subjects.

Results

In the proband, ES de

SUBMITTER: Dainelli A 

PROVIDER: S-EPMC10690669 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature