Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

被引：20

作者：

Kawasaki, Yuki ^{[1
]}

Kuki, Ichiro ^{[2
]}

Ehara, Eiji ^{[1
]}

Murakami, Yosuke ^{[1
]}

Okazaki, Shin ^{[2
]}

Kawawaki, Hisashi ^{[2
]}

Hara, Munetsugu ^{[3
]}

Watanabe, Yoriko ^{[3
]}

Kishimoto, Shintaro ^{[3
]}

Suda, Kenji ^{[3
]}

Saitsu, Hirotomo ^{[4
]}

Matsumoto, Naomichi ^{[5
]}

机构：

[1] Osaka City Gen Hosp, Dept Pediat Cardiol, Osaka, Japan

[2] Osaka City Gen Hosp, Dept Pediat Neurol, Osaka, Japan

[3] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka, Japan

[4] Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

[5] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

来源：

JOURNAL OF PEDIATRICS | 2017年 / 191卷

基金：

日本学术振兴会; 日本科学技术振兴机构;

关键词：

POTASSIUM CHANNEL; QUINIDINE; SPECTRUM; EPILEPSIES; GAIN;

D O I：

10.1016/j.jpeds.2017.08.057

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.

引用

页码：270 / 274

页数：5

共 31 条

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Abdelnour, Elie
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Robertino Dilena
Jacopo C. DiFrancesco
Maria Virginia Soldovieri
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Paolo Ambrosino
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[27] Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy
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Soldovieri, Maria Virginia
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Ambrosino, Paolo
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[28] Two South Indian Children with KCNT1-Related Malignant Migrating Focal Seizures of Infancy - Clinical Characteristics and Outcome of Targeted Treatment with Quinidine
Patil, Abhijit Anil
Vinayan, K. P.
Roy, Arun Grace
ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2019, 22 (03) : 311 - 315
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Merino-Andreu, Milagros
Castaneda-Cabrero, Carlos
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 117 : 202 - 205
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Abdelnour, Elie
Gallentine, William
McDonald, Marie
Sachdev, Monisha
Jiang, Yong-Hui
Mikati, Mohamad A.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 69 : 305 - 305

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