Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Autor: Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Sawaishi Y; Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan., Saito T; Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Japan., Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Jazyk: angličtina
Zdroj: Annals of neurology [Ann Neurol] 2018 Jul; Vol. 84 (1), pp. 159-161. Date of Electronic Publication: 2018 Jul 30.
DOI: 10.1002/ana.25256
Databáze: MEDLINE