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Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation / 대한소아신경학회지
Article de En | WPRIM | ID: wpr-79080
Bibliothèque responsable: WPRO
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.
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Texte intégral: 1 Indice: WPRIM Sujet Principal: Potassium / Quinidine / Crises épileptiques / Encéphalopathies / Mutation faux-sens / Épilepsie Limites du sujet: Humans langue: En Texte intégral: Journal of the Korean Child Neurology Society Année: 2017 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Potassium / Quinidine / Crises épileptiques / Encéphalopathies / Mutation faux-sens / Épilepsie Limites du sujet: Humans langue: En Texte intégral: Journal of the Korean Child Neurology Society Année: 2017 Type: Article