A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

por Haginoya, Kazuhiro, Sekiguchi, Futoshi, Munakata, Mitsutoshi, Yokoyama, Hiroyuki, Hino-Fukuyo, Naomi, Uematsu, Mitsugu, Jin, Kazutaka, Nagamatsu, Kenichi, Ando, Tadashi, Miyake, Noriko, Matsumoto, Naomichi, Kure, Shigeo
Publicado 2020

Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

por Baba, Shimpei, Okanishi, Tohru, Homma, Yoichiro, Yoshida, Takeshi, Goto, Tomohide, Fukasawa, Tatsuya, Kobayashi, Satoru, Kamei, Atsushi, Fujii, Yuji, Hino‐Fukuyo, Naomi, Yamada, Keitaro, Daida, Atsuro, Kawawaki, Hisashi, Hoshino, Hideki, Sejima, Hitoshi, Ishida, Yusuke, Okazaki, Tetsuya, Inui, Takehiko, Kanai, Sotaro, Motoi, Hirotaka, Itamura, Shinji, Nishimura, Mitsuyo, Enoki, Hideo, Fujimoto, Ayataka
Publicado 2021

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

por Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.
Publicado 2018