Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Naomichi Matsumoto"'
Autor:
Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that presents with cardiac, craniofacial, and cutaneous symptoms, and is often accompanied by neurological abnormalities, including neurodevelopmental disorders and epilepsy. Regarding ep
Externí odkaz:
https://doaj.org/article/7ee32f2855f04425ad05a13adade4356
Autor:
Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-7 (2019)
Abstract Background We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. Case presentation Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_1384
Externí odkaz:
https://doaj.org/article/34287c8170fb446fa293db36da0f8b22
Autor:
Kohei Hamanaka, Wee Teik Keng, Eriko Koshimizu, Naomi Tsuchida, Nobuhiko Okamoto, Satoko Miyatake, Shinichi Kameyama, Hiromi Fukuda, Naomichi Matsumoto, Yuri Uchiyama, Lip Hen Moey, Atsushi Fujita, Takeshi Mizuguchi
Publikováno v:
Journal of Human Genetics. 67:169-173
Biallelic variants in ZNF142 at 2q35, which encodes zinc-finger protein 142, cause neurodevelopmental disorder with seizures or dystonia. We identified compound heterozygous null variants in ZNF142, NM_001105537.4:c.[1252C>T];[1274-2A>G],p.[Arg418*];
Autor:
Masahiro Ito, Yasunari Sakai, Kazuyuki Nakamura, Jun-ichi Takanashi, Koichi Tanda, Jun Tohyama, Kanako Kishimoto, Seiichiro Yoshioka, Yukitoshi Takahashi, Kazuhiro Haginoya, Yu Kobayashi, Naomichi Matsumoto, Ryoko Honda, Masaya Kubota, Koji Tominaga, Hiroshi Fujita, Mitsuko Nakashima, Mitsuhiro Kato, Tomohide Goto, Manabu Tanaka, Takeshi Inoue, Hirotomo Saitsu
Publikováno v:
Brain and Development. 43:505-514
Objective Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible ap
Autor:
Hisashi Kawawaki, Ichiro Kuki, Mitsuko Nakashima, Takeshi Inoue, Naomichi Matsumoto, Megumi Nukui, Kiyohiro Kim, Shin Okazaki, Masataka Fukuoka
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021)
Epilepsia Open
Epilepsia Open
Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there ar
Autor:
Tomoko Mizuno, Rie Miyata, Akira Hojo, Mitsuhiro Kato, Naomichi Matsumoto, Yumie Tamura, Takeshi Mizuguchi, Mitsuko Nakashima
Publikováno v:
Brain and Development. 43:343-347
Background Recent studies have suggested that two PACS2 pathogenic variants, c.625G > A (p.Glu209Lys) and c.631G > A (p.Glu211Lys), have been causally linked to the characteristic developmental and epileptic encephalopathy, including autistic behavio
Autor:
Aya Goji, Toshitaka Kawarai, Hiromichi Ito, Yoshihiro Toda, Kenji Mori, Naomichi Matsumoto, Atsushi Fujita, Tatsuo Mori
Publikováno v:
Epilepsy & Seizure. 13:45-50
Although epilepsy is a known complication in Coffin-Siris syndrome, its clinical symptoms and effective treatment methods have not been thoroughly investigated so far. Here, we present the case of a female with a 594-kb interstitial deletion at 6q25.
Autor:
Kenji Sugai, Yu Matsumura, Chihiro Takase, Masaharu Hayashi, Naomichi Matsumoto, Kentaro Shirai, Takeshi Mizuguchi, Ayaka Hirasawa-Inoue, Akimitsu Watanabe, Tomohiro Watanabe
Publikováno v:
Brain and Development. 42:607-611
Background Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic encephalopathies resistant to antiepileptic drugs, therefore carrying an extremely poor neurodevelopmental outcome. KCNT1, encoding for a sodium-
Autor:
Kazuyuki Nakamura, Nodoka Hinokuma, Nobutsune Ishikawa, Koyo Ohno, Kazuhiro Iwama, Satoko Miyatake, Masataka Fukuoka, Naomichi Matsumoto, Kazuna Yamamoto, Masano Amamoto, Mariko Kasai, Tetsuhiro Fukuyama, Toshiyuki Itai, Shinjiro Akaboshi, Chikako Ogawa, Yohane Miyata, Pin Fee Chong, Hiroko Ikeda, Tomoe Shinagawa, Yuichi Abe, Mitsuhiro Kato, Kiyohito Okumiya, Shingo Oana, Shumpei Uchino, Kozue Kobayashi, Ryutaro Kira, Hideyuki Asai, Akira Hojo, Masami Togawa, Hirotomo Saitsu, Yoshihiro Maegaki, Mitsuko Nakashima, Takeshi Mizuguchi
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information and blood
Autor:
Ximena Stecher, Muzhirah Haniffa, Kohei Hamanaka, Paola Santander, Mónica Troncoso, Den Kouhei, Nobuhiko Okamoto, Satomi Mitsuhashi, Valeria Schonstedt, Sebastian Silva, Naomichi Matsumoto, Noriko Miyake, Takeshi Mizuguchi, Masamune Sakamoto
Publikováno v:
Journal of Human Genetics. 65:751-757
Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination