Kiyoshi Hayasaka

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

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato et al. · Nature Genetics · 1993 · 364 citations

Medicine, Genetics, Neurology +12

Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A

Kazuki Kijima, Chikahiko Numakura, Hiroko Izumino et al. · Human Genetics · 2004 · 254 citations

Life Sciences, Genetics, Neurology +14

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