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

• 영문명: Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation
• 발행기관: 대한소아신경학회
• 저자명: 지나리(Nalee Jee) 고아라(Ara Ko) 김세희(Se Hee Kim) 이준수(Joon Soo Lee) 김흥동(Heung Dong Kim) 이승태(Seung-Tae Lee) 최종락(Jong Rak Choi) 강훈철(Hoon Chul Kang)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제25권 제3호, 169~173쪽, 전체 5쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2017.07.30

영문 초록

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.

키워드

Epilepsy of infancy with migrating focal seizure KCNT1 mutation Quinidine