Michiko Torio

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev et al. · European Journal of Human Genetics · 2015 · 123 citations · Full text

Epileptic Encephalopathy, Gnao1 Variants, Neurological Disorder +9

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2016 · 44 citations

Intellectual Impairment, Missense Mutations, Developmental Biology +9

<i>De Novo</i> Truncating Mutation of <i>TRIM8</i> Causes Early‐Onset Epileptic Encephalopathy

Yasunari Sakai, Ryoko Fukai, Yuki Matsushita et al. · Annals of Human Genetics · 2016 · 31 citations

Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate

Kenichi Tetsuhara, Satoshi Akamine, Yoshie Matsubara et al. · Brain and Development · 2022 · 26 citations · Full text

Severe Encephalopathy, Pathogenesis, Pediatrics +4

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion

Soo Young Lee, Masafumi Sanefuji, Michiko Torio et al. · Journal of the Neurological Sciences · 2016 · 24 citations

Neurorehabilitation, Neurophysiology, Neuroanatomy +15