Jun Tohyama

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 · 539 citations

Neurological Disorder, Genetic Disorder, Genetics +8

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 · 228 citations · Full text

G Protein-coupled Receptor, Genetic Disorder, Genetics +8

Somatic Mutations in the <scp><i>MTOR</i></scp> gene cause focal cortical dysplasia type <scp>II</scp>b

Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei et al. · Annals of Neurology · 2015 · 197 citations

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

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

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki et al. · Cell Reports · 2018 · 179 citations · Full text