The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.

ABSTRACT:

Objective

Familial focal epilepsy with variable foci (FFEVF) is a rare type of focal epilepsy syndrome; it is associated with NPRL3 variant. However, relevant reports are rare in China. We aimed to analyze the clinical features of Chinese patients with FFEVF to understand further the differences between various NPRL3 variants and explored the effect of NPRL3 variant on mRNA.

Methods

We ran a full workup on a family with FFEVF (four patients, one healthy member): an inquiry of medical history, cranial magnetic resonance imaging (MRI), electroencephalogram (EEG), and whole exon sequencing. Their clinical features were compared with those of other FFEVF patients in published reports. The mRNA splicing changes were analyzed quantitatively and qualitatively using real-time quanti

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10132533 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature