Art

J-GLOBAL ID：201802210494648373   Reference number：18A0362976

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report

ミオクローヌス癲癇を有するCACNA1A関連早期発症脳症:症例報告

Author (9)： Hayashida Takuya (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Saito Yoshiaki (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Ishii Atsushi (Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan) ,  Yamada Hiroyuki (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Itakura Ayako (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Minato Toshinori (Department of Pediatrics, Toyooka Public Hospital, Toyooka, Japan) ,  Fukuyama Tetsuhiro (Department of Neurology, Nagano Children’s Hospital, Azumino, Japan) ,  Maegaki Yoshihiro (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Hirose Shinichi (Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 40  Issue： 2  Page： 130-133  Publication year： Feb. 2018 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *myoclonus ,...
Semi thesaurus term： *CACNA1A ,...

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Author keywords (3)： CACNA1A ,  Early-onset epileptic encephalopathy ,  Hyperekplexia

JST classification (2)： Neurologic diagnosis  (GN02000H) ,  Transport of cell membrane  (EF04020R)

Reference (10)：

• Zamponi, G.W., Lory, P., Perez-Reyes, E. Role of voltage-gated calcium channels in epilepsy. Pflugers Arch. 2010;460:395-403.
• Sintas, C., Carreño, O., Fernàndez-Castillo, N., Corominas, R., Vila-Pueyo, M., Toma, C. et al, Mutation spectrum in the CACNA1A Gene in 49 patients with episodic ataxia. Sci Rep. 2017;7:2514.
• Jouvenceau, A., Eunson, L.H., Spauschus, A., Ramesh, V., Zuberi, S.M., Kullmann, D.M. et al, Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet. 2001;358:801-7.
• Luo, X., Rosenfeld, J.A., Yamamoto, S., Harel, T., Zuo, Z., Hall, M. et al, Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genetics. 2017;13:e1006905.
• Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet. 2016;99:287-98.

Terms in the title (5)： ミオクローヌス癲癇 ,  早期 ,  発症 ,  脳症 ,  症例報告