Noriyuki Akasaka

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei et al. · The American Journal of Human Genetics · 2007 · 179 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Autoantibodies and Cell‐mediated Autoimmunity to NMDA‐type GluRɛ2 in Patients with Rasmussen's Encephalitis and Chronic Progressive Epilepsia Partialis Continua

Yukitoshi Takahashi, Hisashi Mori, Masayoshi Mishina et al. · Epilepsia · 2005 · 90 citations · Full text

Life Sciences, Neurology, Neuroscience +17

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato et al. · Brain and Development · 2015 · 76 citations

Life Sciences, Genetics, Neuroscience +17

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita et al. · Nature Communications · 2021 · 71 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +15

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Tomohiro Kumada, Masatoshi Ito, Tomoko Miyajima et al. · Brain and Development · 2005 · 66 citations

Medicine, Genetics, Neurology +14