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. |
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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. |
Key Words:
Epilepsy of infancy with migrating focal seizure, KCNT1 mutation, Quinidine |
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