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KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예

Other Titles
 Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation 
Authors
 지나리  ;  고아라  ;  김세희  ;  이준수  ;  김흥동  ;  이승태  ;  최종락  ;  강훈철 
Citation
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.25(3) : 169-173, 2017 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2017
Keywords
Epilepsy of infancy with migrating focal seizure ; KCNT1 mutation ; Quinidine
Abstract
Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety of genes, with potassium sodium-activated channel subfamily T member 1 (KCNT1) being an example. Previously reported KCNT1 mutations in MFEI are gain-of-function mutations. Therefore, quinidine therapy targeted at reduction of pathologically increased KCNT1 channel-mediated potassium conductance has been proposed as a target treatment for MEFI with KCNT1 mutation. The authors report a case involving a patient with MFEI and a missense mutation in KCNT1 (c.7129G>A; p.Phe346Leu) treated with quinidine therapy. Seizure activity was poorly responsive to quinidine.
Files in This Item:
T201703695.pdf Download
DOI
10.26815/jkcns.2017.25.3.169
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 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
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Jee, Nalee(지나리)
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160938
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