Infantile refractory seizures due to de novo KCNT 1 mutation

被引：8

作者：

Alsaleem, Mahdi ^{[1
]}

Carrion, Vivien ^{[2
]}

Weinstock, Arie ^{[3
]}

Chandrasekharan, Praveen ^{[2
]}

机构：

[1] Univ Kansas, Childrens Mercy Hosp, Pediat, Wichita, KS 67214 USA

[2] SUNY Buffalo, Pediat, Buffalo, NY USA

[3] SUNY Buffalo, Neurol, Buffalo, NY USA

来源：

BMJ CASE REPORTS | 2019年 / 12卷 / 10期

关键词：

MIGRATING PARTIAL SEIZURES; KETOGENIC DIET;

D O I：

10.1136/bcr-2019-231178

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

引用

页数：4

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