Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment
Mizuguchi, Masashi, Ohsawa, Maki, Kashii, Hirofumi, Sato, Atsushi
Published in International journal of molecular sciences (22.06.2021)
Published in International journal of molecular sciences (22.06.2021)
Get full text
Journal Article
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
Kato, Mitsuhiro, Yamagata, Takanori, Kubota, Masaya, Arai, Hiroshi, Yamashita, Sumimasa, Nakagawa, Taku, FujII, Takanari, Sugai, Kenji, Imai, Kaoru, Uster, Tami, Chitayat, David, Weiss, Shelly, Kashii, Hirofumi, Kusano, Ryosuke, Matsumoto, Ayumi, Nakamura, Kazuyuki, Oyazato, Yoshinobu, Maeno, Mari, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saito, Kayoko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2013)
Published in Epilepsia (Copenhagen) (01.07.2013)
Get full text
Journal Article
Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study
Fukui, Kana Okazaki, Kubota, Masaya, Terashima, Hiroshi, Ishiguro, Akira, Kashii, Hirofumi
Published in Brain & development (Tokyo. 1979) (01.08.2019)
Published in Brain & development (Tokyo. 1979) (01.08.2019)
Get full text
Journal Article
Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex
Kashii, Hirofumi, Kasai, Shinya, Sato, Atsushi, Hagino, Yoko, Nishito, Yasumasa, Kobayashi, Toshiyuki, Hino, Okio, Mizuguchi, Masashi, Ikeda, Kazutaka
Published in Human genomics (02.02.2023)
Published in Human genomics (02.02.2023)
Get full text
Journal Article
Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero
Kotajima-Murakami, Hiroko, Kobayashi, Toshiyuki, Kashii, Hirofumi, Sato, Atsushi, Hagino, Yoko, Tanaka, Miho, Nishito, Yasumasa, Takamatsu, Yukio, Uchino, Shigeo, Ikeda, Kazutaka
Published in Molecular brain (08.01.2019)
Published in Molecular brain (08.01.2019)
Get full text
Journal Article
Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis
Kubota, Masaya, Ohta, Sayaka, Ando, Aki, Koyama, Akiko, Terashima, Hiroshi, Kashii, Hirofumi, Hoshino, Hideki, Sugita, Katsuo, Hayashi, Masaharu
Published in Pediatrics international (01.06.2015)
Published in Pediatrics international (01.06.2015)
Get full text
Journal Article
Brain hyperserotonemia causes autism-relevant social deficits in mice
Tanaka, Miho, Sato, Atsushi, Kasai, Shinya, Hagino, Yoko, Kotajima-Murakami, Hiroko, Kashii, Hirofumi, Takamatsu, Yukio, Nishito, Yasumasa, Inagaki, Masumi, Mizuguchi, Masashi, Hall, F Scott, Uhl, George R, Murphy, Dennis, Sora, Ichiro, Ikeda, Kazutaka
Published in Molecular autism (26.11.2018)
Published in Molecular autism (26.11.2018)
Get full text
Journal Article
Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis
Tamura, Yumie, Fukuda, Mitsumasa, Ishiyama, Akihiko, Nishida, Hiroya, Kashii, Hirofumi, Mashimo, Hideaki, Inoue, Kenji, Sakuma, Hiroshi, Kumada, Satoko
Published in Epilepsy & behavior reports (01.01.2024)
Published in Epilepsy & behavior reports (01.01.2024)
Get full text
Journal Article
Analysis of a child who developed abnormal neuropsychiatric symptoms after administration of oseltamivir: a case report
Morimoto, Kaori, Nagaoka, Kei, Nagai, Akira, Kashii, Hirofumi, Hosokawa, Masakiyo, Takahashi, Yukitoshi, Ogihara, Takuo, Kubota, Masaya
Published in BMC neurology (05.08.2015)
Published in BMC neurology (05.08.2015)
Get full text
Journal Article
Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review
Arisaka, Atsuko, Nakashima, Mitsuko, Kumada, Satoko, Inoue, Kenji, Nishida, Hiroya, Mashimo, Hideaki, Kashii, Hirofumi, Kato, Mitsuhiro, Maruyama, Koichi, Okumura, Akihisa, Saitsu, Hirotomo, Matsumoto, Naomichi, Fukuda, Mitsumasa
Published in Epilepsy & behavior reports (01.01.2021)
Published in Epilepsy & behavior reports (01.01.2021)
Get full text
Journal Article
Scintigraphic imaging in the diagnosis of failed intrathecal baclofen therapy: a case report of a 7-year-old boy with ventriculoperitoneal shunt
Shibata, Akiko, Yamamoto, Mariko, Watanabe, Yu, Terashima, Hiroshi, Kashii, Hirofumi, Kubota, Masaya, Morota, Nobuhito
Published in No to hattatsu (01.09.2015)
Published in No to hattatsu (01.09.2015)
Get more information
Journal Article
Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non‐epileptic event
Fukuda, Mitsumasa, Tojima, Maya, Inoue, Kenji, Mashimo, Hideaki, Kashii, Hirofumi, Kumada, Satoko, Usami, Kiyohide, Ikeda, Akio
Published in Epileptic disorders (01.06.2023)
Published in Epileptic disorders (01.06.2023)
Get full text
Journal Article
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B
Sugeno, Naoto, Kumada, Satoko, Kashii, Hirofumi, Ikezawa, Jun, Kawarai, Toshitaka, Nakamura, Takaaki, Miyata, Ako, Ishiyama, Shun, Sato, Kazuki, Yoshida, Shun, Sekiguchi, Hutoshi, Hamanaka, Kohei, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi, Akagawa, Hiroyuki, Kosaki, Kenjiro, Yoshihashi, Hiroshi, Hasegawa, Takafumi, Aoki, Masashi
Published in Parkinsonism & related disorders (01.07.2024)
Published in Parkinsonism & related disorders (01.07.2024)
Get full text
Journal Article
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.
Published in American journal of human genetics (04.02.2021)
Published in American journal of human genetics (04.02.2021)
Get full text
Journal Article
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
Nakashima, Mitsuko, Kashii, Hirofumi, Murakami, Yoshiko, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Kubota, Masaya, Kinoshita, Taroh, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Neurogenetics (01.08.2014)
Published in Neurogenetics (01.08.2014)
Get full text
Journal Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-Ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi
Published in Nature communications (07.06.2019)
Published in Nature communications (07.06.2019)
Get full text
Journal Article