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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy H Saitsu, M Kato, T Mizuguchi, K Hamada, H Osaka, J Tohyama, K Uruno, ... Nature genetics 40 (6), 782-788, 2008 | 624 | 2008 |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Y Tsurusaki, N Okamoto, H Ohashi, T Kosho, Y Imai, Y Hibi-Ko, T Kaname, ... Nature genetics 44 (4), 376-378, 2012 | 562 | 2012 |
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood H Saitsu, T Nishimura, K Muramatsu, H Kodera, S Kumada, K Sugai, ... Nature genetics 45 (4), 445-449, 2013 | 477 | 2013 |
Lissencephaly and the molecular basis of neuronal migration M Kato, WB Dobyns Human molecular genetics 12 (suppl_1), R89-R96, 2003 | 375 | 2003 |
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation M Kato, S Das, K Petras, K Kitamura, K Morohashi, DN Abuelo, M Barr, ... Human mutation 23 (2), 147-159, 2004 | 355 | 2004 |
Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy J Takanashi, H Oba, AJ Barkovich, H Tada, Y Tanabe, H Yamanouchi, ... Neurology 66 (9), 1304-1309, 2006 | 267 | 2006 |
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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation M Kato, T Yamagata, M Kubota, H Arai, S Yamashita, T Nakagawa, T FujII, ... Epilepsia 54 (7), 1282-1287, 2013 | 264 | 2013 |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome K Nakamura, M Kato, H Osaka, S Yamashita, E Nakagawa, K Haginoya, ... Neurology 81 (11), 992-998, 2013 | 253 | 2013 |
De novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy K Nakamura, H Kodera, T Akita, M Shiina, M Kato, H Hoshino, ... The American Journal of Human Genetics 93 (3), 496-505, 2013 | 244 | 2013 |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ... Neurology 75 (1), 64-71, 2010 | 233 | 2010 |
MLL2 and KDM6A mutations in patients with Kabuki syndrome N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ... American journal of medical genetics Part A 161 (9), 2234-2243, 2013 | 217 | 2013 |
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) M Kato, S Saitoh, A Kamei, H Shiraishi, Y Ueda, M Akasaka, J Tohyama, ... The American Journal of Human Genetics 81 (2), 361-366, 2007 | 210 | 2007 |
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb M Nakashima, H Saitsu, N Takei, J Tohyama, M Kato, H Kitaura, M Shiina, ... Annals of neurology 78 (3), 375-386, 2015 | 204 | 2015 |
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly Y Yoneda, K Haginoya, M Kato, H Osaka, K Yokochi, H Arai, A Kakita, ... Annals of neurology 73 (1), 48-57, 2013 | 184 | 2013 |
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus R Guerrini, F Moro, M Kato, AJ Barkovich, T Shiihara, MA McShane, ... Neurology 69 (5), 427-433, 2007 | 180 | 2007 |
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term,“interneuronopathy” M Kato, WB Dobyns Journal of child neurology 19 (3), 392-397, 2004 | 180 | 2004 |
Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay H Saitsu, J Tohyama, T Kumada, K Egawa, K Hamada, I Okada, ... The American Journal of Human Genetics 86 (6), 881-891, 2010 | 178 | 2010 |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations C Ohba, M Kato, S Takahashi, T Lerman‐Sagie, D Lev, H Terashima, ... Epilepsia 55 (7), 994-1000, 2014 | 170 | 2014 |