Targeted Treatment of Migrating Partial Seizures of Infancy with Quinidine

被引：199

作者：

Bearden, David ^{[1
]}

Strong, Alanna ^{[2
]}

Ehnot, Jessica ^{[3
]}

DiGiovine, Marissa ^{[1
]}

Dlugos, Dennis ^{[1
]}

Goldberg, Ethan M. ^{[1
]}

机构：

[1] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] Upstate Golisano Childrens Hosp, Dept Pharm, New York, NY USA

来源：

ANNALS OF NEUROLOGY | 2014年 / 76卷 / 03期

关键词：

ACTIVATED POTASSIUM CHANNEL; SLACK; MUTATIONS; GAIN; GENE;

D O I：

10.1002/ana.24229

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Migrating partial seizures of infancy is an early onset epileptic encephalopathy syndrome that is typically resistant to treatment. The most common cause is a gain of function mutation in the potassium channel KCNT1. The antiarrhythmic drug quinidine is a partial antagonist of KCNT1 and hence may be a candidate drug for treatment of this condition. We report the case of a child with migrating partial seizures of infancy secondary to an activating mutation in KCNT1 treated with quinidine. Treatment with quinidine was correlated with a marked reduction in seizure frequency and improved psychomotor development.

引用

页码：457 / 461

页数：5

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