Article
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
Epilepsy research - 1 Nov 2018
Haginoya Kazuhiro, Togashi Noriko, Kaneta Tomohiro, Hino-Fukuyo Naomi, Ishitobi Mamiko, Kakisaka Yosuke, Uematsu Mitsugu, Inui Takehiko, Okubo Yukimune, Sato Ryo, Miyabayashi Takuya, Arai Akira, Ogiwara Ikuo, Mazaki Emi, Yamakawa Kazuhiro, Iinuma Kazuhie, Kure Shigeo
Abstract excerpt
OBJECTIVE: To understand cerebral brain dysfunction in patients with Dravet syndrome (DS), we conducted a [18F]fluorodeoxyglucose-positron emission tomography (FDG-PET) study in patients with DS whose SCN1A gene variant was confirmed. METHODS: FDG-PET was performed on eight patients with DS. A SCN1A mutation analysis revealed missense variants in four patients and truncation variants in four patients. The...
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