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Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K. Suzuki T, et al. Among authors: inoue y. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV. Bailey JN, et al. Among authors: inoue y. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free article.
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
Tomioka NH, Yasuda H, Miyamoto H, Hatayama M, Morimura N, Matsumoto Y, Suzuki T, Odagawa M, Odaka YS, Iwayama Y, Won Um J, Ko J, Inoue Y, Kaneko S, Hirose S, Yamada K, Yoshikawa T, Yamakawa K, Aruga J. Tomioka NH, et al. Among authors: inoue y. Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501. Nat Commun. 2014. PMID: 25047565 Free article.
A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.
Singh B, Ogiwara I, Kaneda M, Tokonami N, Mazaki E, Baba K, Matsuda K, Inoue Y, Yamakawa K. Singh B, et al. Among authors: inoue y. Neurobiol Dis. 2006 Nov;24(2):245-53. doi: 10.1016/j.nbd.2006.07.001. Epub 2006 Aug 24. Neurobiol Dis. 2006. PMID: 16934482
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano SI, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K. Suzuki T, et al. Among authors: inoue y. Sci Rep. 2022 May 17;12(1):6505. doi: 10.1038/s41598-022-10715-w. Sci Rep. 2022. PMID: 35581205 Free PMC article.
8,410 results