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KMID : 0391520170250030169
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Journal of the Korean Child Neurology Society
2017 Volume.25 No. 3 p.169 ~ p.173
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Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation
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Jee Na-Lee
Ko A-Ra
Kim Se-Hee
Lee Joon-Soo
Kim Heung-Dong
Lee Seung-Tae
Choi Jong-Rak
Kang Hoon-Chul
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Abstract
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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.
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KEYWORD
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Epilepsy of infancy with migrating focal seizure , KCNT1 mutation , Quinidine
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