| A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction T Sugawara, Y Tsurubuchi, KL Agarwala, M Ito, G Fukuma, ... Proceedings of the National Academy of Sciences 98 (11), 6384-6389, 2001 | 545 | 2001 |
| Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes A Hoshino, M Saitoh, A Oka, A Okumura, M Kubota, Y Saito, J Takanashi, ... Brain and Development 34 (5), 337-343, 2012 | 405 | 2012 |
| Genetic testing in the epilepsies—report of the ILAE Genetics Commission R Ottman, S Hirose, S Jain, H Lerche, I Lopes‐Cendes, JL Noebels, ... Epilepsia 51 (4), 655-670, 2010 | 267 | 2010 |
| A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy S Hirose, H Iwata, H Akiyoshi, K Kobayashi, M Ito, K Wada, S Kaneko, ... Neurology 53 (8), 1749-1749, 1999 | 260 | 1999 |
| Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB) G Fukuma, H Oguni, Y Shirasaka, K Watanabe, T Miyajima, S Yasumoto, ... Epilepsia 45 (2), 140-148, 2004 | 237 | 2004 |
| Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures T Sugawara, E Mazaki–Miyazaki, M Ito, H Nagafuji, G Fukuma, ... Neurology 57 (4), 703-705, 2001 | 220 | 2001 |
| Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from … M Takahashi, J Takeda, S Hirose, R Hyman, N Inoue, T Miyata, E Ueda, ... The Journal of experimental medicine 177 (2), 517-521, 1993 | 207 | 1993 |
| Primary structure of human placental 5′‐nucleotidase and identification of the glycolipid anchor in the mature form Y Misumi, S Ogata, K Ohkubo, S Hirose, Y Ikehara European journal of biochemistry 191 (3), 563-569, 1990 | 175 | 1990 |
| Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity K Kanai, S Hirose, H Oguni, G Fukuma, Y Shirasaka, T Miyajima, K Wada, ... Neurology 63 (2), 329-334, 2004 | 168 | 2004 |
| Characterization of putative glycoinositol phospholipid anchor precursors in mammalian cells. Localization of phosphoethanolamine. S Hirose, GM Prince, D Sevlever, L Ravi, TL Rosenberry, E Ueda, ... Journal of Biological Chemistry 267 (24), 16968-16974, 1992 | 167 | 1992 |
| A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions S Hirose, F Zenri, H Akiyoshi, G Fukuma, H Iwata, T Inoue, M Yonetani, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 149 | 2000 |
| A human Dravet syndrome model from patient induced pluripotent stem cells N Higurashi, T Uchida, C Lossin, Y Misumi, Y Okada, W Akamatsu, ... Molecular brain 6, 1-12, 2013 | 148 | 2013 |
| Primary structure of rat liver 5'-nucleotidase deduced from the cDNA. Presence of the COOH-terminal hydrophobic domain for possible post-translational modification by … Y Misumi, S Ogata, S Hirose, Y Ikehara Journal of Biological Chemistry 265 (4), 2178-2183, 1990 | 148 | 1990 |
| Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome X Shi, S Yasumoto, E Nakagawa, T Fukasawa, S Uchiya, S Hirose Brain and Development 31 (10), 758-762, 2009 | 142 | 2009 |
| Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study T Inoue, K Hattori, K Ihara, A Ishii, K Nakamura, S Hirose Journal of human genetics 58 (8), 548-552, 2013 | 141 | 2013 |
| Clinical spectrum of SCN2A mutations X Shi, S Yasumoto, H Kurahashi, E Nakagawa, T Fukasawa, S Uchiya, ... Brain and Development 34 (7), 541-545, 2012 | 140 | 2012 |
| Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy S Hirose Progress in brain research 213, 55-85, 2014 | 134 | 2014 |
| Brefeldin A arrests the intracellular transport of a precursor of complement C3 before its conversion site in rat hepatocytes K Oda, S Hirose, N Takami, Y Misumi, A Takatsuki, Y Ikehara FEBS letters 214 (1), 135-138, 1987 | 131 | 1987 |
| IgG subclasses and complement pathway in segmental and global membranous nephropathy Y Segawa, S Hisano, M Matsushita, T Fujita, S Hirose, M Takeshita, ... Pediatric nephrology 25, 1091-1099, 2010 | 129 | 2010 |
| SCN8A encephalopathy: Research progress and prospects MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, ... Epilepsia 57 (7), 1027-1035, 2016 | 124 | 2016 |
