Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Autor: Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)

Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de0565eb6ff84cd751bf7022649d2bd
https://pubmed.ncbi.nlm.nih.gov/36305856

Anti-epileptics alter hypothyroidism of patients with severe motor and intellectual disabilities

Autor: Tsunenori, Hirayama, Harumi, Saijo, Toshihiko, Kohji, Takanori, Ezoe, Sui, Sone, Katsuhito, Araki, Hiroshi, Hamaguchi, Hisaharu, Suzuki, Kiyoko, KKurata

Publikováno v: No to hattatsu = Brain and development. 49(1)

Objective: Anti-epileptic drugs, such as carbamazepine (CBZ) or phenytoin, may induce hypothyroidism in epilepsy patients. We assessed thyroid function of chronic patients with severe motor and intellectual disabilities (SMID) in our hospital. Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ed6b082fc860f7a7a04b1016cff6b42
https://pubmed.ncbi.nlm.nih.gov/30011149

A Male-case of Non-secondary Sexual Characteristic Septo-optic Dysplasia with Carbamazepine-induced Syndrome of Inappropriate Secretion of Antidiuretic Hormone

Autor: Takanori Ezoe, Tsunenori Hirayama, Hisaharu Suzuki, Harumi Saijo, Sui Sone, Hiroshi Hamaguchi, Kiyoko Kurata, Mayumi Iwata-Okada, Katsuhito Araki, Yoshiko Takeda

Publikováno v: Journal of the Japan Epilepsy Society. 28:409-415

カルバマゼピン（CBZ）による抗利尿ホルモン不適合分泌症候群（SIADH）や低Na血症はよく知られた副作用であるが、その機序については不明な点が多い。今回、我々はMRI画像やホルモン検

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aab4547ff6950350067594a2c2d1c6e3
https://doi.org/10.3805/jjes.28.409

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

Autor: Harumi Nakayama, Takanori Ezoe, Naohide Shiroma, Yoshito Hirayama, Masataka Arima, Naomi Kanazawa, Katsuhito Araki, Hisaharu Suzuki, Sui Sone, Harumi Saijo, Hiroshi Hamaguchi, Seiichi Tsujino

Publikováno v: Brain and Development. 25:362-366

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61376e4b556fbde27d834bbbbe1dce8f
https://doi.org/10.1016/s0387-7604(03)00006-8

Pyruvate dehydrogenase complex deficiency with multiple minor anomalies

Autor: Kazuhiko Cho, Takumi Tasaki, Aya Tokumitsu, Harumi Saijo, Hajime Tanaka, Akie Miyamoto, Jun-ichi Ito, Satoru Takahashi, Junichi Oki

Publikováno v: Pediatrics International. 39:230-232

Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydrogenase (PDH) E1 alpha gene is described

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f987b3e79001d92b8d6ce8718b6d3a
https://doi.org/10.1111/j.1442-200x.1997.tb03588.x