PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.

ABSTRACT:

Objective

Self-limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2-positive SeLIE only, and anti-seizure medications are often required due to frequent seizures at initial seizure onset. This study aimed to provide clinical information for the early recognition of patients with PRRT2-positive SeLIE and to propose effective anti-seizure medications for seizure control.

Methods

We retrospectively reviewed 36 patients diagnosed with SeLIE with genetically confirmed pathogenic variants of PRRT2. In addition, six atypical cases with neonatal-onset seizures and unremitting after 3 years of age were included to understand the expanded clinical spectrum of PRRT2-r

SUBMITTER: Lee J 

PROVIDER: S-EPMC10235569 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature