| A homozygous mutation of voltage‐gated sodium channel βI gene SCN1B in a patient with Dravet syndrome I Ogiwara, T Nakayama, T Yamagata, H Ohtani, E Mazaki, S Tsuchiya, ... Epilepsia 53 (12), e200-e203, 2012 | 100 | 2012 |
| Nav1. 2 haplodeficiency in excitatory neurons causes absence-like seizures in mice I Ogiwara, H Miyamoto, T Tatsukawa, T Yamagata, T Nakayama, ... Communications biology 1 (1), 96, 2018 | 91 | 2018 |
| Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination T Nakayama, A Al-Maawali, M El-Quessny, A Rajab, S Khalil, JM Stoler, ... The American Journal of Human Genetics 96 (5), 709-719, 2015 | 80 | 2015 |
| Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome N Hino-Fukuyo, A Kikuchi, N Arai-Ichinoi, T Niihori, R Sato, T Suzuki, ... Human genetics 134, 649-658, 2015 | 75 | 2015 |
| Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy T Nakayama, J Wu, P Galvin‐Parton, J Weiss, MR Andriola, RS Hill, ... Human mutation 38 (10), 1348-1354, 2017 | 63 | 2017 |
| Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome T Nakayama, I Ogiwara, K Ito, M Kaneda, E Mazaki, H Osaka, H Ohtani, ... Human mutation 31 (7), 820-829, 2010 | 56 | 2010 |
| Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features Q Ouyang, T Nakayama, O Baytas, SM Davidson, C Yang, M Schmidt, ... Proceedings of the National Academy of Sciences 113 (38), E5598-E5607, 2016 | 54 | 2016 |
| Complete remission of seizures after corpus callosotomy M Iwasaki, M Uematsu, Y Sato, T Nakayama, K Haginoya, S Osawa, ... Journal of Neurosurgery: Pediatrics 10 (1), 7-13, 2012 | 51 | 2012 |
| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ... Genetics in Medicine 23 (6), 1028-1040, 2021 | 34 | 2021 |
| Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake T Nakayama, S Tanaka, M Uematsu, A Kikuchi, N Hino-Fukuyo, ... Brain and Development 36 (2), 143-147, 2014 | 31 | 2014 |
| Acute encephalitis with refractory, repetitive partial seizures: pathological findings and a new therapeutic approach using tacrolimus Y Sato, Y Numata-Uematsu, M Uematsu, A Kikuchi, T Nakayama, ... Brain and Development 38 (8), 772-776, 2016 | 27 | 2016 |
| Somatic mosaic deletions involving SCN1A cause Dravet syndrome T Nakayama, A Ishii, T Yoshida, H Nasu, K Shimojima, T Yamamoto, ... American Journal of Medical Genetics Part A 176 (3), 657-662, 2018 | 24 | 2018 |
| Efficacy of long term weekly ACTH therapy for intractable epilepsy T Inui, T Kobayashi, S Kobayashi, R Sato, W Endo, A Kikuchi, ... Brain and Development 37 (4), 449-454, 2015 | 23 | 2015 |
| A framework for individualized splice-switching oligonucleotide therapy J Kim, S Woo, CM de Gusmao, B Zhao, DH Chin, RL DiDonato, ... Nature 619 (7971), 828-836, 2023 | 22 | 2023 |
| Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia T Nakayama, Y Sato, M Uematsu, M Takagi, S Hasegawa, S Kumada, ... Brain and Development 37 (3), 362-365, 2015 | 19 | 2015 |
| Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy M Iwasaki, M Uematsu, T Nakayama, N Hino-Fukuyo, Y Sato, ... Seizure 22 (4), 303-305, 2013 | 18 | 2013 |
| Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly M Uematsu, K Haginoya, N Togashi, N Hino-Fukuyo, T Nakayama, ... Epilepsy research 92 (2-3), 201-208, 2010 | 16 | 2010 |
| Identifying the primary epileptogenic hemisphere from electroencephalographic (EEG) and magnetoencephalographic dipole lateralizations in children with intractable epilepsy A Ochi, H Otsubo, K Iida, M Oishi, I Elliott, SK Weiss, T Kutomi, ... Journal of child neurology 20 (11), 885-892, 2005 | 16 | 2005 |
| Hypoperfusion in caudate nuclei in patients with brain–lung–thyroid syndrome M Uematsu, K Haginoya, A Kikuchi, T Nakayama, Y Kakisaka, Y Numata, ... Journal of the neurological sciences 315 (1-2), 77-81, 2012 | 14 | 2012 |
| Repeat magnetoencephalography and surgeries to eliminate atonic seizures of non-lesional frontal lobe epilepsy T Nakayama, T Otsuki, Y Kaneko, H Nakama, T Kaido, H Otsubo, ... Epilepsy research 84 (2-3), 263-267, 2009 | 14 | 2009 |
Masaki IwasakiDepartment of Neurosurgery, National Center Hospital, National Center of Neurology and PsychiatryEmail verificata su ncnp.go.jp
