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

[1] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy
Ishii, Atsushi
Shioda, Mutsuki
Okumura, Akihisa
Kidokoro, Hiroyuki
Sakauchi, Masako
Shimada, Shino
Shimizu, Toshiald
Osawa, Makiko
Hirose, Shinichi
Yamamoto, Toshiyuki
GENE, 2013, 531 (02) : 467 - 471
[2] Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy
Rizzo, Francesca
Ambrosino, Paolo
Guacci, Anna
Chetta, Massimiliano
Marchese, Giovanna
Rocco, Teresa
Soldovieri, Maria Virginia
Manocchio, Laura
Mosca, Ilaria
Casara, Gianluca
Vecchi, Marilena
Taglialatela, Maurizio
Coppola, Giangennaro
Weisz, Alessandro
MOLECULAR AND CELLULAR NEUROSCIENCE, 2016, 72 : 54 - 63
[3] De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Giulia Barcia
Matthew R Fleming
Aline Deligniere
Valeswara-Rao Gazula
Maile R Brown
Maeva Langouet
Haijun Chen
Jack Kronengold
Avinash Abhyankar
Roberta Cilio
Patrick Nitschke
Anna Kaminska
Nathalie Boddaert
Jean-Laurent Casanova
Isabelle Desguerre
Arnold Munnich
Olivier Dulac
Leonard K Kaczmarek
Laurence Colleaux
Rima Nabbout
Nature Genetics, 2012, 44 : 1255 - 1259
[4] De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Barcia, Giulia
Fleming, Matthew R.
Deligniere, Aline
Gazula, Valeswara-Rao
Brown, Maile R.
Langouet, Maeva
Chen, Haijun
Kronengold, Jack
Abhyankar, Avinash
Cilio, Roberta
Nitschke, Patrick
Kaminska, Anna
Boddaert, Nathalie
Casanova, Jean-Laurent
Desguerre, Isabelle
Munnich, Arnold
Dulac, Olivier
Kaczmarek, Leonard K.
Colleaux, Laurence
Nabbout, Rima
NATURE GENETICS, 2012, 44 (11) : 1255 - 1259
[5] Response to Cannabidiol in Epilepsy of Infancy with Migrating Focal Seizures Associated with KCNT1 Mutations
Poisson, K.
Wong, M.
Lee, C.
Cilio, M.
ANNALS OF NEUROLOGY, 2016, 80 : S323 - S323
[6] Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures
Kuchenbuch, Mathieu
Benquet, Pascal
Kaminska, Anna
Roubertie, Agathe
Carme, Emilie
de Saint Martin, Anne
Hirsch, Edouard
Dubois, Fanny
Laroche, Cecile
Barcia, Giulia
Chemaly, Nicole
Milh, Matthieu
Villeneuve, Nathalie
Sauleau, Paul
Modolo, Julien
Wendling, Fabrice
Nabbout, Rima
EPILEPSIA, 2019, 60 (01) : 20 - 32
[7] A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
Shimada S.
Hirano Y.
Ito S.
Oguni H.
Nagata S.
Shimojima K.
Yamamoto T.
Human Genome Variation, 1 (1)
[8] Early Infantile Epileptic Encephalopathy Type 14: Three Cases of Infantile Epilepsy with Migrating Focal Seizures Due to Mutations in the KCNT1 Gene
Kholin A.A.
Zavadenko N.N.
Fedonyuk I.D.
Antonets A.V.
Mukhin K.Y.
Malov A.G.
Vshivkov M.I.
Anisimov G.V.
Il’ina E.S.
Neuroscience and Behavioral Physiology, 2020, 50 (5) : 534 - 540
[9] MALIGNANT MIGRATING PARTIAL SEIZURES IN INFANCY; ADDITIONAL THREE CASES FROM TURKISH POPULATION
Tosun, A.
Serdaroglu, G.
Polat, M.
Tekgul, H.
Gokben, S.
EPILEPSIA, 2009, 50 : 207 - 207
[10] A quinidine nonresponsive de novo KCNT1 mutation in a patient with epilepsy of infancy with migrating focal seizures
Giorgi, M.
Tzaneti, A.
Stefanidi, A.
Spanou, M.
Angeli, M.
Ntinopoulos, A.
EPILEPSIA, 2023, 64 : 445 - 445

← 1 2 3 4 →