Chihiro Ohba

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

Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi et al. · Epilepsia · 2014 · 169 citations

De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy

Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi et al. · Epilepsia · 2015 · 122 citations · Full text

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Chihiro Ohba, Hitoshi Osaka, Mizue Iai et al. · Neurogenetics · 2013 · 120 citations

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

<i>PIGA</i> mutations cause early-onset epileptic encephalopathies and distinctive features

Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami et al. · Neurology · 2014 · 103 citations