Clinical and Experimental Pediatrics

Original Article

Neurology

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea

Sun Ah Choi, Minhye Kim, Hye Jin Kim, Woo Joong Kim, Byung Chan Lim, Ji Yeon Han, Hunmin Kim, Min-Jee Kim, Mi-Sun Yum, Jiwon Lee, Jeehun Lee, Hyewon Woo, Jon Soo Kim

Clin Exp Pediatr. 2026;69(5):386-393. Published online February 19, 2026

Web of Science 2 Crossref 2

Question: How have epilepsy and cognitive outcomes of children with infantile epileptic spasms syndrome (IESS) evolved over the past 20 years?
Finding: Approximately 78% of children developed chronic epilepsy, and one-third progressed to drug-resistant epilepsy, while 90% of them exhibited intellectual disabilities.
Meaning: Given the poor outcomes associated with IESS, consensus guidelines tailored to Korean clinical practice are required to ensure timely treatment and improve outcomes.

DOI: https://doi.org/10.3345/cep.2025.02089

Clinical Note

Neurology

Expanding association between BICD2 variants and brain malformations and associated lissencephaly

Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae

Clin Exp Pediatr. 2024;67(1):54-56. Published online December 21, 2023

DOI: https://doi.org/10.3345/cep.2023.01095

Genetics and Metabolism

Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim

Clin Exp Pediatr. 2023;66(3):142-144. Published online December 30, 2022

Web of Science 4 Crossref 3

DOI: https://doi.org/10.3345/cep.2022.01144

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