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Ann Child Neurol > Volume 25(3); 2017 > Article
Journal of the Korean Child Neurology Society 2017;25(3):169-173.
DOI: https://doi.org/10.26815/jkcns.2017.25.3.169    Published online September 30, 2017.
Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation.
Nalee Jee, Ara Ko, Se Hee Kim, Joon Soo Lee, Heung Dong Kim, Seung Tae Lee, Jong Rak Choi, Hoon Chul Kang
1Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac
2Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
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.
Key Words: Epilepsy of infancy with migrating focal seizure, KCNT1 mutation, Quinidine
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