Comprehensive genomic analysis on perisylvian syndrome

• Project/Area Number: 17K10080
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: Miyatake Satoko 横浜市立大学, 附属病院, 講師 (50637890)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2019: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2017: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
• Keywords: 全エクソーム解析 / 傍シルビウス裂症候群 / 多少脳回 / 遺伝学 / ゲノム

Outline of Final Research Achievements

Perisylvian syndrome is a rare disorder of the brain in which cortical malformation, usually polymicrogyria, occurs around the Sylvian fissures, and characterized by pseudobulbar palsy, intellectual disability or epilepsy. This study aimed to identify the genetic cause of perisylvian syndrome by comprehensive genome analyses on Japanese patients with this disease. We have identified and reported SCN3A, novel gene associated with polymicrogyria in 2018. We have also detected novel genes A, B, C, and D, for this disease, and are now doing in vitro, and/or in vivo analyses to confirm them in collaboration with other research institutes.

Academic Significance and Societal Importance of the Research Achievements

本疾患は、その原因として胎児期の環境要因と並んで遺伝学的要因が想定されているが、遺伝学的要因についてはその多くは原因不明である。今回の研究で、新たな疾患責任遺伝子SCN3Aを同定したことは、その病態を理解し治療法について検討する第一歩であり社会的意義は大きい。本遺伝子は細胞膜に局在する電位依存性ナトリウムチャネルの構成分子をコードする。これまでてんかんの責任遺伝子として知られていたが、脳構造異常をきたすことは知られていなかった。今回の発見により、イオンチャネル遺伝子と脳形成異常との関連が示唆されたことは学術的意義がある。

Research Products

• [Journal Article] Epilepsy in Christianson syndrome: Two cases of Lennox?Gastaut syndrome and a review of literature (2020)
  • Author(s): Ikeda Azusa、Yamamoto Ayako、Ichikawa Kazushi、Tsuyusaki Yu、Tsuji Megumi、Iai Mizue、Enomoto Yumi、Murakami Hiroaki、Kurosawa Kenji、Miyatake Satoko、Matsumoto Naomichi、Goto Tomohide
  • Journal Title: Epilepsy & Behavior Reports Volume: 13 Pages: 100349-100349
  • DOI: 10.1016/j.ebr.2019.100349
  • Peer Reviewed / Open Access
• [Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities (2020)
  • Author(s): Miyake Noriko et al., Matsumoto Naomichi
  • Journal Title: The American Journal of Human Genetics Volume: 106 Issue: 1 Pages: 13-25
  • DOI: 10.1016/j.ajhg.2019.11.011
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Phenotype?genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms (2020)
  • Author(s): Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
  • Journal Title: Brain and Development Volume: 42 Issue: 2 Pages: 199-204
  • DOI: 10.1016/j.braindev.2019.10.006
  • Peer Reviewed
• [Journal Article] Long-read Sequencing Identifies the Pathogenic Nucleotide Repeat Expansion in RFC1 in a Japanese Case of CANVAS (2020)
  • Author(s): Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota, Misako Kunii, Yu Kitazawa, Mikiko Tada, Mitsuo Okamoto, Hideto Joki, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
  • Journal Title: Journal of Human Genetics Volume: 65 Issue: 5 Pages: 475-480
  • DOI: 10.1038/s10038-020-0733-y
  • Peer Reviewed / Open Access
• [Journal Article] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy (2020)
  • Author(s): Hamanaka Kohei、Imagawa Eri、Koshimizu Eriko、Miyatake Satoko、Tohyama Jun、Yamagata Takanori、Miyauchi Akihiko、Ekhilevitch Nina、Nakamura Fumio、Kawashima Takeshi、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi et al.,
  • Journal Title: The American Journal of Human Genetics Volume: 106(4) Issue: 4 Pages: 549-558
  • DOI: 10.1016/j.ajhg.2020.02.011
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report (2020)
  • Author(s): Yotsumoto Y, Harada A, Tsugawa J, Ikura Y, Utsunomiya H, Miyatake S, Matsumoto N, Kanemura Y, Hashimoto-Tamaoki T.
  • Journal Title: Mol Clin Oncol Volume: 12 Pages: 329-335
  • DOI: 10.3892/mco.2020.1988
  • Peer Reviewed / Open Access
• [Journal Article] Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil (2020)
  • Author(s): Ohko Kentaro、Nakajima Kimiko、Nakajima Hideki、Hiraki Yoko、Kubota Kazuo、Fukao Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Sano Shigetoshi
  • Journal Title: The Journal of Dermatology Volume: 47 Issue: 3 Pages: 306-310
  • DOI: 10.1111/1346-8138.15216
  • Peer Reviewed
• [Journal Article] Novel variants of ABCC9 in Japanese children with Cant? syndrome (2020)
  • Author(s): Kubota Kazuo、Yamamoto Takahiro、Miyatake Satoko、Matsumoto Naomichi、Fukao Toshiyuki
  • Journal Title: Pediatrics International Volume: 62 Issue: 3 Pages: 410-412
  • DOI: 10.1111/ped.14098
  • Peer Reviewed
• [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients (2019)
  • Author(s): Sekiguchi Futoshi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 12 Pages: 1173-1186
  • DOI: 10.1038/s10038-019-0667-4
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019)
  • Author(s): Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 2506-2506
  • DOI: 10.1038/s41467-019-10482-9
  • Peer Reviewed / Open Access
• [Journal Article] GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy (2019)
  • Author(s): Okubo Masaki、Doi Hiroshi、et al.
  • Journal Title: Annals of Neurology Volume: 86 Issue: 6 Pages: 962-968
  • DOI: 10.1002/ana.25586
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019)
  • Author(s): Aoi Hiromi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 10 Pages: 967-978
  • DOI: 10.1038/s10038-019-0643-z
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases (2019)
  • Author(s): Murakami Yoshiko, et al., Matsumoto Naomichi, et al., Campeau Philippe M.
  • Journal Title: The American Journal of Human Genetics Volume: 105 Issue: 2 Pages: 384-394
  • DOI: 10.1016/j.ajhg.2019.05.019
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease (2019)
  • Author(s): Tsuchida Naomi、Kirino Yohei、Soejima Yutaro、Onodera Masafumi、Arai Katsuhiro、Tamura Eiichiro、Ishikawa Takashi、Kawai Toshinao、Uchiyama Toru、Nomura Shigeru、Kobayashi Daisuke、Taguri Masataka、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Nakajima Hideaki、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Arthritis Research & Therapy Volume: 21 Issue: 1 Pages: 137-137
  • DOI: 10.1186/s13075-019-1928-5
  • Peer Reviewed / Open Access
• [Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy (2019)
  • Author(s): Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 8 Pages: 821-827
  • DOI: 10.1038/s10038-019-0617-1
  • Peer Reviewed
• [Journal Article] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42 (2019)
  • Author(s): Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, （32名略） Ishikawa T, Tanaka F
  • Journal Title: Neurobiology of Disease Volume: 130 Pages: 104516-104516
  • DOI: 10.1016/j.nbd.2019.104516
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019)
  • Author(s): Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Neurology Volume: 93 Issue: 3
  • DOI: 10.1212/wnl.0000000000007774
  • Peer Reviewed
• [Journal Article] Leaky splicing variant in sepiapterin reductase deficiency (2019)
  • Author(s): Nakagama Yu、Hamanaka Kohei、Mimaki Masakazu、Shintaku Haruo、Miyatake Satoko、Matsumoto Naomichi、Hirohata Koji、Inuzuka Ryo、Oka Akira
  • Journal Title: Neurology Genetics Volume: 5 Issue: 2
  • DOI: 10.1212/nxg.0000000000000319
  • Peer Reviewed / Open Access
• [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration (2019)
  • Author(s): Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 印刷中 Issue: 14 Pages: 2319-2329
  • DOI: 10.1093/hmg/ddz066
  • Peer Reviewed
• [Journal Article] A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy (2019)
  • Author(s): Oguni Hirokazu、Nishikawa Aiko、Sato Yu、Otani Yui、Ito Susumu、Nagata Satoru、Kato Mitsuhiro、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Epilepsy Research Volume: 155 Pages: 106149-106149
  • DOI: 10.1016/j.eplepsyres.2019.06.001
  • Peer Reviewed
• [Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant (2019)
  • Author(s): Uchiyama Yuri、Kim Chong A、Pastorino Antonio Carlos、Ceroni Jos?、Lima Patricia Picciarelli、de Barros Dorna Mayra、Honjo Rachel Sayuri、Bertola D?bora、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 955-960
  • DOI: 10.1038/s10038-019-0631-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing (2019)
  • Author(s): Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 11 Pages: 1107-1116
  • DOI: 10.1038/s10038-019-0654-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 (2019)
  • Author(s): Saida Ken、Kim Chong Ae、Ceroni Jos? Ricardo Magliocco、Bertola Debora Romeo、Honjo Rachel Sayuri、Mitsuhashi Satomi、Takata Atsushi、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 885-890
  • DOI: 10.1038/s10038-019-0626-0
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation (2019)
  • Author(s): Ishikawa Nobutsune、Tateishi Yuichi、Tani Hiroo、Kobayashi Yoshiyuki、Itai Toshiyuki、Miyatake Satoko、Kato Mitsuhiro、Matsumoto Naomichi、Kobayashi Masao
  • Journal Title: Seizure Volume: 71 Pages: 20-23
  • DOI: 10.1016/j.seizure.2019.05.024
  • Peer Reviewed
• [Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report (2019)
  • Author(s): Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
  • Journal Title: BMC Neurology Volume: 19 Issue: 1 Pages: 253-253
  • DOI: 10.1186/s12883-019-1489-x
  • Peer Reviewed / Open Access
• [Journal Article] Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation. (2019)
  • Author(s): Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S,Matsumoto N, Fujii Y.
  • Journal Title: World Neurosurg. Volume: 印刷中 Pages: 446-450
  • DOI: 10.1016/j.wneu.2019.04.156
  • Peer Reviewed
• [Journal Article] Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing (2019)
  • Author(s): Hirasawa-Inoue Ayaka、Ishiyama Akihiko、Takeshita Eri、Shimizu-Motohashi Yuko、Saito Takashi、Komaki Hirofumi、Nakagawa Eiji、Yuasa Shota、Saitsu Hirotomo、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Sasaki Masayuki
  • Journal Title: Brain and Development Volume: 41 Issue: 10 Pages: 905-909
  • DOI: 10.1016/j.braindev.2019.06.006
  • Peer Reviewed
• [Journal Article] A Japanese patient with RAD51 ‐associated Fanconi anemia (2019)
  • Author(s): Takenaka Satoshi、Kuroda Yukiko、Ohta Sayaka、Mizuno Yoko、Hiwatari Mitsuteru、Miyatake Satoko、Matsumoto Naomichi、Oka Akira
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 6 Pages: 900-902
  • DOI: 10.1002/ajmg.a.61130
  • Peer Reviewed
• [Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads (2019)
  • Author(s): Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
  • Journal Title: Genome Biology Volume: 20 Issue: 1 Pages: 58-58
  • DOI: 10.1186/s13059-019-1667-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (2019)
  • Author(s): Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
  • Journal Title: Journal of Medical Genetics Volume: - Issue: 6 Pages: 396-407
  • DOI: 10.1136/jmedgenet-2018-105775
  • Peer Reviewed / Open Access
• [Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing (2019)
  • Author(s): Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 5 Pages: 359-368
  • DOI: 10.1038/s10038-019-0569-5
  • Peer Reviewed
• [Journal Article] The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A (2019)
  • Author(s): Kibe Tetsuya、Hasegawa Hiroshi、Ichida Kimiyoshi、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Yokochi Kenji、Yoshimura Ayumi
  • Journal Title: Neuropediatrics Volume: - Issue: 02 Pages: 126-129
  • DOI: 10.1055/s-0039-1677869
  • Peer Reviewed
• [Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS) (2019)
  • Author(s): Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
  • Journal Title: Seizure Volume: 65 Pages: 118-123
  • DOI: 10.1016/j.seizure.2019.01.009
  • Peer Reviewed
• [Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019)
  • Author(s): Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 4 Pages: 347-350
  • DOI: 10.1038/s10038-018-0556-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images ? A first case of CLCN2-related leukoencephalopathy in Japan (2019)
  • Author(s): Hoshi Miyuki、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Imamura Atsushi
  • Journal Title: Brain and Development Volume: 41 Issue: 1 Pages: 101-105
  • DOI: 10.1016/j.braindev.2018.07.011
  • Peer Reviewed
• [Journal Article] SOFT syndrome in a patient from Chile (2018)
  • Author(s): Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 3 Pages: 338-340
  • DOI: 10.1002/ajmg.a.61015
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases (2018)
  • Author(s): Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 3 Pages: 191-197
  • DOI: 10.1038/s10038-018-0551-7
  • Peer Reviewed
• [Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018)
  • Author(s): Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
  • Journal Title: European Journal of Human Genetics Volume: 27 Issue: 3 Pages: 378-383
  • DOI: 10.1038/s41431-018-0289-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
  • Journal Title: Genetics in Medicine Volume: - Issue: 7 Pages: 1629-1638
  • DOI: 10.1038/s41436-018-0360-6
  • Peer Reviewed
• [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome (2018)
  • Author(s): Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
  • Journal Title: Annals of Neurology Volume: 84 Issue: 6 Pages: 814-828
  • DOI: 10.1002/ana.25370
  • Peer Reviewed
• [Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease (2018)
  • Author(s): Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
  • Journal Title: Annals of Neurology Volume: 84 Issue: 6 Pages: 843-853
  • DOI: 10.1002/ana.25367
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy (2018)
  • Author(s): Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 538-547
  • DOI: 10.1111/cge.13454
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 12 Pages: 1223-1229
  • DOI: 10.1038/s10038-018-0516-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia (2018)
  • Author(s): Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 548-553
  • DOI: 10.1111/cge.13423
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] PEX10-related autosomal recessive cerebellar ataxia with hearing loss (2018)
  • Author(s): Kaya Ozcora GD、Miyatake Satoko、Matsumoto Naomichi、Canpolat Mehmet、Erdogan Murat、Bayramov Ruslan、Kumandas Sefer
  • Journal Title: Acta Neurologica Belgica Volume: - Issue: 2 Pages: 429-432
  • DOI: 10.1007/s13760-018-0987-8
  • Peer Reviewed
• [Journal Article] Novel SUZ12 mutations in Weaver-like syndrome (2018)
  • Author(s): Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 5 Pages: 461-466
  • DOI: 10.1111/cge.13415
  • Peer Reviewed
• [Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia (2018)
  • Author(s): Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 10 Pages: 1049-1054
  • DOI: 10.1038/s10038-018-0488-x
  • Peer Reviewed
• [Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum (2018)
  • Author(s): Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 3-4 Pages: 362-367
  • DOI: 10.1111/cge.13385
  • Peer Reviewed
• [Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales (2018)
  • Author(s): Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 2 Pages: 274-275
  • DOI: 10.1111/cge.13369
  • Peer Reviewed
• [Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (2018)
  • Author(s): Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Human Mutation Volume: 39 Issue: 8 Pages: 1070-1075
  • DOI: 10.1002/humu.23550
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria (2018)
  • Author(s): Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Annals of Neurology Volume: 84 Issue: 1 Pages: 159-161
  • DOI: 10.1002/ana.25256
  • Peer Reviewed
• [Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel (2018)
  • Author(s): Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
  • Journal Title: Clinical Genetics Volume: - Issue: 2 Pages: 232-238
  • DOI: 10.1111/cge.13371
  • Peer Reviewed
• [Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies (2018)
  • Author(s): Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
  • Journal Title: The Cerebellum Volume: 印刷中 Issue: 5 Pages: 525-530
  • DOI: 10.1007/s12311-018-0941-6
  • Peer Reviewed
• [Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions (2017)
  • Author(s): Miyatake Satoko、Koshimizu Eriko、Shirai Ikuko、Kumada Satoko、Nakata Yasuhiro、Kamemaru Aiko、Nakashima Mitsuko、Mizuguchi Takeshi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Movement Disorders Volume: 33 Issue: 1 Pages: 177-179
  • DOI: 10.1002/mds.27219
  • Peer Reviewed
• [Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. (2017)
  • Author(s): Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 印刷中 Issue: 8 Pages: 741-746
  • DOI: 10.1038/jhg.2017.24
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Presentation] 脳小血管病の新たな疾患責任遺伝子 COL4A1/COL4A2 (2019)
  • Author(s): 宮武聡子
  • Organizer: 第37回日本神経治療学会学術集会
• [Presentation] Biallelic COLGALT1 variants as a novel genetic cause of cerebral small vessel disease (2019)
  • Author(s): Satoko Miyatake,Norihisa Koyama, Kenji Yokochi, Kayo Ohmura, Eriko Koshimizu, Yuri Uchiyama, Hiroshi Doi, Hideyuki Takeuchi, Satomi Mitsuhashi, Mitsuko Nakashima, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] 次世代シーケンサーを用いたコピー数解析 (2019)
  • Author(s): 宮武聡子
  • Organizer: 第26回臨床細胞遺伝学セミナー
  • Invited
• [Presentation] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions. (2018)
  • Author(s): Satoko Miyatake, Ikuko Shirai, Satoko Kumada, Yasuhiro Nakata, Naomichi Matsumoto
  • Organizer: 第59回日本神経学会学術大会
• [Presentation] ネマリンミオパチーの遺伝学的研究. (2018)
  • Author(s): 宮武聡子
  • Organizer: 第59回日本神経学会学術大会
  • Invited
• [Presentation] MYPN関連ミオパチー. (2018)
  • Author(s): 宮武聡子
  • Organizer: 日本小児神経学会
  • Invited
• [Presentation] The de novo hotspot variant in SCN3A in patients accompanying polymicrogyria (2018)
  • Author(s): Satoko Miyatake, Mitsuhiro Kato, Yukio Sawaishi, Takashi Saito, Naomichi Matsumoto
  • Organizer: 第63回日本人類遺伝学会
• [Presentation] 女性医師、研究者のキャリアパスについて (2018)
  • Author(s): 宮武聡子
  • Organizer: 第63回日本人類遺伝学会
  • Invited
• [Presentation] ミオパチーのエキソーム解析 (2017)
  • Author(s): 宮武聡子
  • Organizer: 第94回日本生理学会大会
  • Invited
• [Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy (2017)
  • Author(s): Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Atsuko Nishikawa, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto
  • Organizer: XXIII World Congress of Neurology
  • Int'l Joint Research
• [Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy (2017)
  • Author(s): 宮武聡子、三橋 里美、林 由起子、西川 敦子、鈴木 幹也、谷田部 可奈、田中 祐三、尾方 克久、久留 聡、埜中 征哉、西野一三、松本直通
  • Organizer: 日本筋学会第3回学術集会
• [Presentation] Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy (2017)
  • Author(s): 宮武聡子、三橋 里美、林 由起子、輿水江里子、鶴崎美徳、中島光子、水口剛、三宅紀子、才津浩智、埜中 征哉、西野一三、松本直通
  • Organizer: 日本人類電学会第62回大会
• [Patent(Industrial Property Rights)] 脳小血管病の確定診断法 (2018)
  • Inventor(s): 松本直通、宮武聡子
  • Industrial Property Rights Holder: 松本直通、宮武聡子
  • Industrial Property Rights Type: 特許
  • Filing Date: 2018