Tomokazu Kimizu

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

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto et al. · International Journal of Neonatal Screening · 2021 · 33 citations · Full text

Medicine, Genetics, Neurology +17

Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome

Keitaro Yamada, Yasuhisa Toribe, Tomokazu Kimizu et al. · Seizure · 2014 · 32 citations

Medicine, Neurology, Neuroscience +16

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi et al. · Brain and Development · 2016 · 31 citations

Medicine, Genetics, Neuroscience +13

Novel biallelic <i><scp>SZT2</scp></i> mutations in 3 cases of early‐onset epileptic encephalopathy

Naomi Tsuchida, Mitsuko Nakashima, Akihiko Miyauchi et al. · Clinical Genetics · 2017 · 29 citations

Life Sciences, Genetics, Neuroscience +17