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PRRT2 ‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers by Jiwon Lee; Young Ok Kim; Byung Chan Lim; Jeehun Lee is a Medicine article available to read on EtoBox.

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## 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__‐related epilepsy. We analyzed the initial presentation, clinical course, and seizure control response to anti‐seizure medications. ## Results Patients with __PRRT2__‐related epilepsy had characteristic seizure semiology at the initial presentation, including all afebrile, clustered (n = 23, 63.9%), short‐duration (n = 33, 91.7%), and bilateral tonic–clonic seizures (n = 26, 7

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Author

Jiwon Lee; Young Ok Kim; Byung Chan Lim; Jeehun Lee

Publisher

Wiley

Published

2023

Language

EN

Field

Medicine (Health Sciences)