Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Shinji Saitoh"'
Publikováno v:
Braindevelopment. 43(4)
Introduction Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders caused by loss of function of maternally expressed UBE3A and paternally expressed contiguous genes on chromosome 15q11-13, respectively. A majority o
Autor:
Ayako Hattori, Kei Murayama, Shinji Saitoh, Atsuko Kori, Tatsushi Tanaka, Kyoko Ban, Ikumi Hori, Yasushi Okazaki, Kohei Aoyama, Koichi Ito
Publikováno v:
Braindevelopment. 41(9)
An m.10158T>C mutation in MT-ND3, encoding a subunit of respiratory complex I, causes early-onset Leigh syndrome (LS), mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) syndrome, and LS and MELAS overlapping syndrome,
Autor:
Shinobu Fukumura, Ikumi Hori, Seiji Mizuno, Yutaka Negishi, Ayako Hattori, Daisuke Ieda, Kei Ohashi, Mie Inaba, Shinji Saitoh, Kohji Kato, Naoko Kurahashi, Koichi Maruyama
Publikováno v:
Braindevelopment. 40(8)
Background Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas
Autor:
Katsumasa Kitamura, Ikumi Hori, Yutaka Negishi, Tomoki Kawai, Takenori Kato, Osamu Ohara, Ayako Hattori, Sachiko Inukai, Shinji Kunishima, Daisuke Ieda, Shinji Saitoh, Hironori Ohshita, Yuji Nakamura, Tsutomu Shinohara
Publikováno v:
Braindevelopment. 40(6)
Introduction Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been est
Autor:
Yutaka Negishi, Naoki Ando, Mitsuko Nakashima, Naomichi Matsumoto, Ayako Hattori, Ikumi Hori, Daisuke Ieda, Yuji Nakamura, Shinji Saitoh
Publikováno v:
Braindevelopment. 40(3)
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required t
Autor:
Kenji Sugai, Yuko Matsuda, Masayuki Sasaki, Chiharu Miyatake, Eiji Nakagawa, Hirofumi Komaki, Shinji Saitoh, Eri Takeshita, Yoshiaki Saito, Masahide Goto, Takahiro Motoki, Ryoko Honda, Akihiko Ishiyama, Kenjiro Kikuchi, Takashi Saito, Chieko Uto
Publikováno v:
Braindevelopment. 37(2)
Objective Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A ( UBE3A ) mutations has been considered similar but is relatively milder than that
Autor:
Shinji Saitoh, Hideaki Shiraishi, Kazuhiro Haginoya, Nobukazu Nakasato, Yutaka Kaneko, Derrick Chan, Hiroshi Otsubo, Eiji Nakagawa
Publikováno v:
Braindevelopment. 36(1)
Rationale: Atypical benign partial epilepsy (ABPE) is characterized by centro-temporal electroencephalography (EEG) spikes, continuous spike and waves during sleep (CSWS), and multiple seizure types including epileptic negative myoclonus (ENM), but n
Publikováno v:
Braindevelopment. 28(5)
X-linked α-thalassemia/mental retardation syndrome (ATR-X, MIM#301040) is an X-linked recessive condition affecting males. ATR-X is characterized by severe mental retardation, mild HbH disease, dysmorphic facies, and genital and skeletal abnormaliti