Article
De novo DNM1 mutations in two cases of epileptic encephalopathy.
Epilepsia - 1 Jan 2016
Nakashima Mitsuko, Kouga Takeshi, Lourenço Charles Marques, Shiina Masaaki, Goto Tomohide, Tsurusaki Yoshinori, Miyatake Satoko, Miyake Noriko, Saitsu Hirotomo, Ogata Kazuhiro, Osaka Hitoshi, Matsumoto Naomichi
Abstract excerpt
Dynamin 1 (DNM1) is a large guanosine triphosphatase involved in clathrin-mediated endocytosis. In recent studies, de novo mutations in DNM1 have been identified in five individuals with epileptic encephalopathy. In this study, we report two patients with early onset epileptic encephalopathy possessing de novo DNM1 mutations. Using whole exome sequencing, we detected the novel mutation c.127G>A (p.Gly43Ser) in a...
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