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Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy

Authors
 Hui Jin Shin  ;  Ara Ko  ;  Se Hee Kim  ;  Joon Soo Lee  ;  Hoon-Chul Kang 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.20(4) : 402-411, 2024-07 
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
 1738-6586 
Issue Date
2024-07
Keywords
channelopathy ; epilepsy ; genetics
Abstract
Background and purpose: There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as SCN1A. However, information on other less-common channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy.

Methods: This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children's Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation.

Results: This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: SCN3A (n=1), SCN4A (n=1), KCNA1 (n=1), KCNA2 (n=4), KCNB1 (n=6), KCNC1 (n=1), and KCNMA1 (n=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients.

Conclusions: Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.
Files in This Item:
T202406901.pdf Download
DOI
10.3988/jcn.2023.0435
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Ko, A Ra(고아라)
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
Shin, Hui Jin(신희진) ORCID logo https://orcid.org/0000-0002-1541-2564
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/201332
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