Shinsaku Yoshitomi

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

Quinidine therapy and therapeutic drug monitoring in four patients with <i>KCNT1</i> mutations

Shinsaku Yoshitomi, Yukitoshi Takahashi, Tokito Yamaguchi et al. · Epileptic Disorders · 2019 · 36 citations · Full text

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

Epileptic Encephalopathy, Neurobiology Of Disease, Neurological Disorder +9

Phenotypes of children with 20q13.3 microdeletion affecting <i>KCNQ2</i> and <i>CHRNA4</i>

Akihisa Okumura, Atsushi Ishii, Keiko Shimojima et al. · Epileptic Disorders · 2015 · 13 citations

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications

Shinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka et al. · Brain and Development · 2015 · 11 citations

Neurobiology Of Disease, Neurophysiology, Pediatrics +6