Ichiro Kuki

Vitamin B ₆ –responsive epilepsy due to inherited GPI deficiency

Ichiro Kuki, Yukitoshi Takahashi, Shin Okazaki et al. · Neurology · 2013 · 96 citations

Genetics, Pathology, Disease Gene Identification +27

<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders

Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato et al. · Annals of Clinical and Translational Neurology · 2018 · 85 citations · Full text

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · Journal of Human Genetics · 2015 · 62 citations · Full text

Sequencing, Engineering, Whole-exome Sequencing Data +12

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)

Shin Okazaki, Maki Ohsawa, Ichiro Kuki et al. · Acta Neuropathologica · 2008 · 61 citations

Neuroanatomy, Abnormal Distribution, Medicine +7