Kiyomi Nishiyama

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 549 citations

Medicine, Genetics, Molecular Genetics +12

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

Life Sciences, Genetics, Neuroscience +10

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 239 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 226 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

Life Sciences, Genetics, Molecular Genetics +17