Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation.
10.26815/jkcns.2017.25.3.169
- Author:
Nalee JEE
1
;
Ara KO
;
Se Hee KIM
;
Joon Soo LEE
;
Heung Dong KIM
;
Seung Tae LEE
;
Jong Rak CHOI
;
Hoon Chul KANG
Author Information
1. Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac
- Publication Type:Case Report
- Keywords:
Epilepsy of infancy with migrating focal seizure;
KCNT1 mutation;
Quinidine
- MeSH:
Brain Diseases;
Epilepsy*;
Humans;
Mutation, Missense;
Potassium;
Quinidine*;
Seizures*
- From:
Journal of the Korean Child Neurology Society
2017;25(3):169-173
- CountryRepublic of Korea
- Language:English
-
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.
