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Acute encephalopathy in children with tuberous sclerosis complex.
Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T, Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura A. Numoto S, et al. Among authors: kuki i. Orphanet J Rare Dis. 2021 Jan 6;16(1):5. doi: 10.1186/s13023-020-01646-8. Orphanet J Rare Dis. 2021. PMID: 33407677 Free PMC article.
Functional neuroimaging in Rasmussen syndrome.
Kuki I, Matsuda K, Kubota Y, Fukuyama T, Takahashi Y, Inoue Y, Shintaku H. Kuki I, et al. Epilepsy Res. 2018 Feb;140:120-127. doi: 10.1016/j.eplepsyres.2018.01.001. Epub 2018 Jan 5. Epilepsy Res. 2018. PMID: 29331846
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Akita T, et al. Among authors: kuki i. Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560374 Free PMC article.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: kuki i. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Shibata A, Kasai M, Hoshino A, Miyagawa T, Matsumoto H, Yamanaka G, Kikuchi K, Kuki I, Kumakura A, Hara S, Shiihara T, Yamazaki S, Ohta M, Yamagata T, Takanashi JI, Kubota M, Oka A, Mizuguchi M. Shibata A, et al. Among authors: kuki i. Brain Dev. 2019 Nov;41(10):862-869. doi: 10.1016/j.braindev.2019.07.008. Epub 2019 Jul 24. Brain Dev. 2019. PMID: 31351739
Reply to the letter: "Acute encephalopathy with brain swelling".
Nukui M, Kawawaki H, Inoue T, Kuki I, Okazaki S, Amo K, Togawa M, Ishikawa J, Rinka H, Shiomi M. Nukui M, et al. Among authors: kuki i. Brain Dev. 2020 Jan;42(1):100-101. doi: 10.1016/j.braindev.2019.08.010. Epub 2019 Sep 20. Brain Dev. 2020. PMID: 31548082 No abstract available.
Current medico-psycho-social conditions of patients with West syndrome in Japan.
Yoshitomi S, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I, Inoue Y. Yoshitomi S, et al. Among authors: kuki i. Epileptic Disord. 2021 Aug 1;23(4):579-589. doi: 10.1684/epd.2021.1301. Epileptic Disord. 2021. PMID: 34269179
89 results