Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries - 23/11/17
Doi : 10.1016/j.jpeds.2017.08.057
Yuki Kawasaki, MD 1, * 
, Ichiro Kuki, MD 2, Eiji Ehara, MD 1, Yosuke Murakami, MD 1, Shin Okazaki, MD 2, Hisashi Kawawaki, MD 2, Munetsugu Hara, MD, PhD 3, Yoriko Watanabe, MD, PhD 3, Shintaro Kishimoto, MD, PhD 3, Kenji Suda, MD, PhD 3, Hirotomo Saitsu, MD, PhD 4, Naomichi Matsumoto, MD, PhD 5
, Ichiro Kuki, MD 2, Eiji Ehara, MD 1, Yosuke Murakami, MD 1, Shin Okazaki, MD 2, Hisashi Kawawaki, MD 2, Munetsugu Hara, MD, PhD 3, Yoriko Watanabe, MD, PhD 3, Shintaro Kishimoto, MD, PhD 3, Kenji Suda, MD, PhD 3, Hirotomo Saitsu, MD, PhD 4, Naomichi Matsumoto, MD, PhD 5 1 Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan
2 Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan
3 Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan
4 Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan
5 Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan
*Reprint requests: Yuki Kawasaki, MD, Department of Pediatric Cardiology, Osaka City General Hospital, 2-13-22 Miyakojimahondori, Miyakojimaku, Osaka City, Osaka 534-0021 Japan.Department of Pediatric CardiologyOsaka City General Hospital2-13-22 Miyakojimahondori, MiyakojimakuOsaka CityOsaka534-0021Japan
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : epilepsy, gain-of-function mutations, heart failure, hemoptysis, potassium channel
Abbreviations : MMPSI, Slack, SPCA
Plan
| Supported in part by Research on Measures for Intractable Diseases; Comprehensive Research on Disability Health and Welfare, the Strategic Research Program for Brain Science (SRPBS) from the Japan Agency for Medical Research and Development (AMED); Scientific Research on Innovative Areas (Transcription Cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT); Scientific Research (B) and challenging Exploratory Research from the Japan Society for the Promotion of Science (JSPS); Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems from the Japan Science and Technology Agency (JST); the Ministry of Health, Labour and Welfare; and the Takeda Science Foundation. The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
Vol 191
P. 270-274 - décembre 2017 Retour au numéro
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