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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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/160938
DOI
10.26815/jkcns.2017.25.3.169
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
Yonsei Authors
강훈철(Kang, Hoon Chul)
고아라(Ko, A Ra)
김세희(Kim, Se Hee)
김흥동(Kim, Heung Dong)
이승태(Lee, Seung-Tae)
이준수(Lee, Joon Soo)
지나리(Jee, Nalee)
최종락(Choi, Jong Rak)
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