| Distinct neurological disorders with ATP1A3 mutations EL Heinzen, A Arzimanoglou, A Brashear, SJ Clapcote, F Gurrieri, ... The Lancet Neurology 13 (5), 503-514, 2014 | 238 | 2014 |
| Mite serine protease activates protease‐activated receptor‐2 and induces cytokine release in human keratinocytes T Kato, T Takai, T Fujimura, H Matsuoka, T Ogawa, K Murayama, A Ishii, ... Allergy 64 (9), 1366-1374, 2009 | 151 | 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 | 145 | 2013 |
| SCN8A encephalopathy: Research progress and prospects MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, ... Epilepsia 57 (7), 1027-1035, 2016 | 127 | 2016 |
| Genotype–phenotype correlations in alternating hemiplegia of childhood M Sasaki, A Ishii, Y Saito, N Morisada, K Iijima, S Takada, A Araki, ... Neurology 82 (6), 482-490, 2014 | 109 | 2014 |
| A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy A Ishii, M Shioda, A Okumura, H Kidokoro, M Sakauchi, S Shimada, ... Gene 531 (2), 467-471, 2013 | 106 | 2013 |
| Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients A Ishii, Y Saito, J Mitsui, H Ishiura, J Yoshimura, H Arai, S Yamashita, ... PloS one 8 (2), e56120, 2013 | 103 | 2013 |
| Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy A Goto, A Ishii, M Shibata, Y Ihara, EC Cooper, S Hirose Epilepsia 60 (9), 1870-1880, 2019 | 93 | 2019 |
| Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy J Wang, H Kurahashi, A Ishii, T Kojima, M Ohfu, T Inoue, A Ogawa, ... Epilepsia 49 (9), 1528-1534, 2008 | 77 | 2008 |
| Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome A Ishii, JC Watkins, D Chen, S Hirose, MF Hammer Epilepsia 58 (2), 282-290, 2017 | 74 | 2017 |
| Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations Y Ihara, Y Tomonoh, M Deshimaru, B Zhang, T Uchida, A Ishii, S Hirose PloS one 11 (2), e0150095, 2016 | 65 | 2016 |
| Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes XY Shi, Y Tomonoh, WZ Wang, A Ishii, N Higurashi, H Kurahashi, ... Brain and Development 38 (1), 40-46, 2016 | 62 | 2016 |
| A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy A Ishii, JQ Kang, CC Schornak, CC Hernandez, W Shen, JC Watkins, ... Journal of medical genetics 54 (3), 202-211, 2017 | 59 | 2017 |
| Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017 M Kasai, A Shibata, A Hoshino, Y Maegaki, H Yamanouchi, J Takanashi, ... Brain and Development 42 (7), 508-514, 2020 | 51 | 2020 |
| Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis A Ishii, S Yasumoto, Y Ihara, T Inoue, T Fujita, N Nakamura, M Ohfu, ... Brain and Development 35 (6), 524-530, 2013 | 50 | 2013 |
| Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy A Ishii, T Kanaumi, M Sohda, Y Misumi, B Zhang, N Kakinuma, Y Haga, ... Epilepsy research 108 (3), 420-432, 2014 | 49 | 2014 |
| Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy J Wang, X Shi, H Kurahashi, SK Hwang, A Ishii, N Higurashi, S Kaneko, ... Epilepsy research 102 (3), 195-200, 2012 | 48 | 2012 |
| Toxicological Studies on Procyanidin B-2 for Extern? al Application as a Hair Growing Agent T Takahashi, Y Yokoo, T Inoue, A Ishii Food and Chemical Toxicology 37 (5), 545-552, 1999 | 48 | 1999 |
| A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures T Saito, A Ishii, K Sugai, M Sasaki, S Hirose Clinical genetics 92 (6), 654-658, 2017 | 47 | 2017 |
| A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions A Ishii, G Fukuma, A Uehara, T Miyajima, Y Makita, A Hamachi, ... Brain and Development 31 (1), 27-33, 2009 | 47 | 2009 |
Shinichi HiroseGeneral Medical Research Center, School of Med., Fukuoka University在 fukuoka-u.ac.jp 的电子邮件经过验证
