J Korean Child Neurol Soc.  2017 Sep;25(3):169-173. 10.26815/jkcns.2017.25.3.169.

Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation

• Jee N
• Ko A
• Kim SH
• Lee JS
• Kim HD
• Lee ST
• Choi JR
• Kang HC

• KMID: 2392554
• DOI: http://doi.org/10.26815/jkcns.2017.25.3.169

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.

Keyword

Epilepsy of infancy with migrating focal seizure; KCNT1 mutation; Quinidine

MeSH Terms

Brain Diseases
Epilepsy*
Humans
Mutation, Missense
Potassium
Quinidine*
Seizures*
Potassium
Quinidine