Application of long-read sequencing technologies to investigate epilepsy-associated genes

• Project/Area Number: 20K08164
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Yokohama City University
• Principal Investigator: MIZUGUCHI Takeshi 横浜市立大学, 医学部, 准教授 (90404996)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Project Status: Completed (Fiscal Year 2022)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2022: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2021: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: ロングリードシークエンサー / てんかん / Structural variant / リピート病 / 遺伝要因 / ゲノム構造変化 / リピート伸長

Outline of Research at the Start

難治性てんかんの遺伝的背景の解明はショートリード型次世代シーケンス解析によりリードされてきたが多くの未解決症例が存在する。このような未解決症例の新たな遺伝要因を解明する事は遺伝子診断率の向上に直結し、遺伝情報を用いたてんかん診療の実現に欠かせない研究課題である。本研究では新規解析技術であるロングリードシーケンサーを用いることで未解決症例の原因探索を行う。

Outline of Final Research Achievements

To investigate the presence of a variant that remained unrecognized by standard genetic testing, we developed an analysis pipeline for long-read sequencing data. Using this pipeline, causal variants were newly identified in a difficult-to-sequence region characterized by GC-rich and repetitive sequences, suggesting the utility of this methodology for medical research. We also revealed previously unrecognized variability in the repeat size, configuration and composition of repeat expansion mutations that cause certain type of epilepsy.

Academic Significance and Societal Importance of the Research Achievements

てんかんは頻回の発作により脳機能に障害をきたす可能性が高く、遺伝子検査により早期に正確な診断をつけることは治療や医療情報提供、予後予測などの点で患者にもたらす利益が大きい。ロングリード解析により未解決症例の少なくとも一部の原因を同定できたこと、臨床症状とリピート内構造について塩基配列レベルの比較検討 (genotype-phenotype association) を行うための情報基盤を提供できたことは、遺伝情報を用いたてんかん診療の実現に資する成果である。

Research Products

• [Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder (2023)
  • Author(s): Miyake Noriko、Tsurusaki Yoshinori、Fukai Ryoko、Kushima Itaru...Takata Atsushi、Mizuguchi Takeshi、Ozaki Norio、Matsumoto Naomichi
  • Journal Title: European Journal of Human Genetics Volume: 27-Mar Issue: 12 Pages: 1-8
  • DOI: 10.1038/s41431-023-01335-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation (2023)
  • Author(s): Mori Tatsuo、Sakamoto Masamune、Tayama Takahiro、Goji Aya、Toda Yoshihiro、Fujita Atsushi、Mizuguchi Takeshi、Urushihara Maki、Matsumoto Naomichi
  • Journal Title: Brain and Development Volume: － Issue: 7 Pages: 395-400
  • DOI: 10.1016/j.braindev.2023.03.001
  • Peer Reviewed
• [Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions (2023)
  • Author(s): Atsushi Fujita et al.
  • Journal Title: Acta Neuropathologica Communications Volume: 11 Issue: 1 Pages: 33-33
  • DOI: 10.1186/s40478-023-01532-x
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants (2023)
  • Author(s): Kodama K, Aoyama H, Murakami Y, Takanashi JI, Koshimizu E, Miyatake S, Iwama K, Mizuguchi T, Matsumoto N, Omata T.
  • Journal Title: Radiol Case Rep Volume: Jan 12;18(3) Issue: 3 Pages: 1217-1220
  • DOI: 10.1016/j.radcr.2022.11.033
  • Peer Reviewed / Open Access
• [Journal Article] Synchronous heart rate reduction with suppression‐burst pattern in <i>KCNT1</i> ‐related developmental and epileptic encephalopathies (2023)
  • Author(s): Yamamoto Kaoru、Baba Shimpei、Saito Takashi、Nakagawa Eiji、Sugai Kenji、Iwasaki Masaki、Fujita Atsushi、Fukuda Hiromi、Mizuguchi Takeshi、Kato Mitsuhiro、Matsumoto Naomichi、Sasaki Masayuki
  • Journal Title: Epilepsia Open Volume: － Issue: 2 Pages: 651-658
  • DOI: 10.1002/epi4.12705
  • Peer Reviewed / Open Access
• [Journal Article] A novel NONO variant that causes developmental delay and cardiac phenotypes (2023)
  • Author(s): Itai T、Sugie A、Nitta Y、Maki R、Suzuki T、Shinkai Y、Watanabe Y、Nakano Y、Ichikawa K、Okamoto N、Utsuno Y、Koshimizu E、Fujita A、Hamanaka K、Uchiyama Y、Tsuchida N、Miyake N、Misawa K、Mizuguchi T、Miyatake S、Matsumoto N
  • Journal Title: Scientific Reports Volume: 13 Issue: 1 Pages: 975-975
  • DOI: 10.1038/s41598-023-27770-6
  • Peer Reviewed / Open Access
• [Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals (2023)
  • Author(s): Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Miyatake S, Lupski JR, Houlden H, Matsumoto N.
  • Journal Title: Genet Med Volume: Jan;25(1) Issue: 1 Pages: 90-102
  • DOI: 10.1016/j.gim.2022.09.010
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions (2022)
  • Author(s): Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto Y, Nishino I, Yoshihashi H, Takeshi Mizuguchi T, Matsumoto N, Egawa N, Kawata A, Isozaki E.
  • Journal Title: Internal Medicine Volume: 61 Issue: 4 Pages: 547-552
  • DOI: 10.2169/internalmedicine.7767-21
  • NAID: 130008159893
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2022-02-15
  • Peer Reviewed / Open Access
• [Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy (2022)
  • Author(s): Sakamoto M et al, Saitoh Sは30番目
  • Journal Title: Genetics in Medicine Volume: 24 Issue: 12 Pages: 2453-2463
  • DOI: 10.1016/j.gim.2022.08.007
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Distal 2q duplication in a patient with intellectual disability (2022)
  • Author(s): Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
  • Journal Title: Hum Genome Var Volume: Nov 10;9(1) Issue: 1 Pages: 39-39
  • DOI: 10.1038/s41439-022-00215-8
  • Peer Reviewed / Open Access
• [Journal Article] Monogenic causes of pigmentary mosaicism (2022)
  • Author(s): Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
  • Journal Title: Human Genetics Volume: 141 Issue: 11 Pages: 1771-1784
  • DOI: 10.1007/s00439-022-02437-w
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing (2022)
  • Author(s): Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
  • Journal Title: npj Genomic Medicine Volume: 7 Issue: 1 Pages: 62-62
  • DOI: 10.1038/s41525-022-00331-y
  • Peer Reviewed / Open Access
• [Journal Article] Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy (2022)
  • Author(s): Liu Yi Hong、Chou Ying Tsen、Chang Fu Pang、Lee Wei Ju、Guo Yuh Cherng、Chou Cheng Ta、Huang Hui Chun、Mizuguchi Takeshi、Chou Chien Chen、Yu Hsiang Yu、Yu Kai Wei、Wu Hsiu Mei、Tsai Pei Chien、Matsumoto Naomichi、Lee Yi Chung、Liao Yi Chu
  • Journal Title: Brain Volume: 145 Issue: 9 Pages: 3010-3021
  • DOI: 10.1093/brain/awac135
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome (2022)
  • Author(s): Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
  • Journal Title: Genomics Volume: Sep;114(5) Issue: 5 Pages: 110468-110468
  • DOI: 10.1016/j.ygeno.2022.110468
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype (2022)
  • Author(s): Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
  • Journal Title: Genomics Volume: 114 Issue: 5 Pages: 110469-110469
  • DOI: 10.1016/j.ygeno.2022.110469
  • Peer Reviewed / Open Access
• [Journal Article] Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease (2022)
  • Author(s): Jung Na-Yeon、Lee Hyun Jung、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Clinical Neurology Volume: 18 Issue: 3 Pages: 358-358
  • DOI: 10.3988/jcn.2022.18.3.358
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome (2022)
  • Author(s): Miyatake S, Yoshida K, Koshimizu E, others, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N.
  • Journal Title: Brain Volume: 145 Issue: 3 Pages: 1139-1150
  • DOI: 10.1093/brain/awab363
  • Peer Reviewed
• [Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. (2022)
  • Author(s): Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
  • Journal Title: Genome Med Volume: 14 Issue: 1 Pages: 40-40
  • DOI: 10.1186/s13073-022-01042-w
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant (2022)
  • Author(s): Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Human Genetics Volume: 141 Issue: 2 Pages: 283-293
  • DOI: 10.1007/s00439-021-02416-7
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome (2022)
  • Author(s): Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y.
  • Journal Title: Hum Mutat Volume: 43 Issue: 1 Pages: 3-15
  • DOI: 10.1002/humu.24287
  • Peer Reviewed
• [Journal Article] Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion (2022)
  • Author(s): Yamada Hiroyuki、Okanishi Tohru、Okazaki Tetsuya、Oguri Masayoshi、Fukuda Hiromi、Uchiyama Yuri、Mizuguchi Takeshi、Matsumoto Naomichi、Maegaki Yoshihiro
  • Journal Title: Brain and Development Volume: 44 Issue: 1 Pages: 68-72
  • DOI: 10.1016/j.braindev.2021.07.007
  • Peer Reviewed
• [Journal Article] Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita (2021)
  • Author(s): Otoshi Ryota、Baba Tomohisa、Shintani Ryota、Kitamura Hideya、Yamaguchi Yukie、Hamanoue Haruka、Mizuguchi Takeshi、Matsumoto Naomichi、Okudela Koji、Takemura Tamiko、Ogura Takashi
  • Journal Title: Internal Medicine Volume: 60 Issue: 8 Pages: 1257-1263
  • DOI: 10.2169/internalmedicine.5143-20
  • NAID: 130008025069
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2021-04-15
  • Peer Reviewed
• [Journal Article] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms (2021)
  • Author(s): Seyama Rie、Tsuchida Naomi、Okada Yasuyuki、Sakata Sonoko、Hamada Keisuke、Azuma Yoshiteru、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Makino Shintaro、Itakura Atsuo、Okada Satoshi、Okamoto Nobuhiko、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 3 Pages: 157-164
  • DOI: 10.1038/s10038-021-00986-y
  • Peer Reviewed
• [Journal Article] Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features (2021)
  • Author(s): Kameyama Shinichi、Mizuguchi Takeshi、Fukuda Hiromi、Moey Lip Hen、Keng Wee Teik、Okamoto Nobuhiko、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 3 Pages: 169-173
  • DOI: 10.1038/s10038-021-00978-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies (2021)
  • Author(s): Liao Yi-Chu、Chang Fu-Pang、Huang Han-Wei、Chen Ting-Bing、Chou Ying-Tsen、Hsu Shao-Lun、Jih Kang-Yang、Liu Yi-Hong、Hsiao Cheng-Tsung、Fukukda Hiromi、Mizuguchi Takeshi、Lin Kon-Ping、Lin Chou-Ching K.、Matsumoto Naomichi、Kennerson Marina、Lee Yi-Chung
  • Journal Title: Neurology Volume: 98 Issue: 2
  • DOI: 10.1212/wnl.0000000000013008
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Novel CLTC variants cause new brain and kidney phenotypes (2021)
  • Author(s): Itai Toshiyuki、Miyatake Satoko、Tsuchida Naomi、Saida Ken、Narahara Sho、Tsuyusaki Yu、Castro Matheus Augusto Araujo、Kim Chong Ae、Okamoto Nobuhiko、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 1 Pages: 1-7
  • DOI: 10.1038/s10038-021-00957-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] <i>De novo ARF3</i> variants cause neurodevelopmental disorder with brain abnormality (2021)
  • Author(s): Sakamoto M、Sasaki K、Sugie A、Nitta Y、Kimura T、G?rsoy S、Cinleti T、Iai M、Sengoku T、Ogata K、Suzuki A、Okamoto N、Iwama K、Tsuchida N、Uchiyama Y、Koshimizu E、Fujita A、Hamanaka K、Miyatake S、Mizuguchi T、Taguri M、Ito S、Takahashi H、Miyake N、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 31 Issue: 1 Pages: 69-81
  • DOI: 10.1093/hmg/ddab224
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy (2021)
  • Author(s): Saida Ken et al.
  • Journal Title: Clinical Genetics Volume: 100 Issue: 6 Pages: 722-730
  • DOI: 10.1111/cge.14066
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing (2021)
  • Author(s): Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
  • Journal Title: Clin Epigenetics Volume: 13 Issue: 1 Pages: 204-204
  • DOI: 10.1186/s13148-021-01192-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant (2021)
  • Author(s): Sakurai Yoshie、Watanabe Tatsuya、Abe Yuki、Nawa Tatsuro、Uchida Toshihiko、Aoi Hiromi、Mizuguchi Takeshi、Matsumoto Naomichi、Haginoya Kazuhiro
  • Journal Title: Brain and Development Volume: 43 Issue: 8 Pages: 863-866
  • DOI: 10.1016/j.braindev.2021.04.011
  • Peer Reviewed
• [Journal Article] Intellectual disability and microcephaly associated with a novel CHAMP1 mutation (2021)
  • Author(s): Asakura Yuta、Osaka Hitoshi、Aoi Hiromi、Mizuguchi Takeshi、Matsumoto Naomichi、Yamagata Takanori
  • Journal Title: Human Genome Variation Volume: 8 Issue: 1 Pages: 34-34
  • DOI: 10.1038/s41439-021-00165-7
  • Peer Reviewed / Open Access
• [Journal Article] Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy (2021)
  • Author(s): Parenti Ilaria、Lehalle Daphn、Nava Caroline、Torti Erin、Leito Elsa、Person Richard、Mizuguchi Takeshi、others、Depienne Christel、Mignot Cyril
  • Journal Title: Human Genetics Volume: 140 Issue: 7 Pages: 1109-1120
  • DOI: 10.1007/s00439-021-02283-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder (2021)
  • Author(s): Ohori Sachiko、Tsuburaya Rie S.、Kinoshita Masako、Miyagi Etsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Frith Martin C.、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 7 Pages: 697-705
  • DOI: 10.1038/s10038-020-00893-8
  • Peer Reviewed
• [Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment. (2021)
  • Author(s): Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
  • Journal Title: Brain Volume: 144 Issue: 4 Pages: 1103-1117
  • DOI: 10.1093/brain/awab021
  • Peer Reviewed / Open Access
• [Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice (2021)
  • Author(s): Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
  • Journal Title: Nat Commun Volume: 12 Issue: 1 Pages: 2107-2107
  • DOI: 10.1038/s41467-021-22389-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing (2021)
  • Author(s): Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N.
  • Journal Title: Genomics Volume: 113 Issue: 1 Pages: 1044-1053
  • DOI: 10.1016/j.ygeno.2020.10.038
  • Peer Reviewed
• [Journal Article] ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children (2021)
  • Author(s): Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T and Matsumoto N
  • Journal Title: Dev Med Child Neurol Volume: 63 Issue: 1 Pages: 111-115
  • DOI: 10.1111/dmcn.14666
  • Peer Reviewed
• [Journal Article] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation (2021)
  • Author(s): Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
  • Journal Title: Front Cell Dev Biol. Volume: 9 Pages: 631428-631428
  • DOI: 10.3389/fcell.2021.631428
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency (2021)
  • Author(s): Morita Atsushi、Enokizono Takashi、Ohto Tatsuyuki、Tanaka Mai、Watanabe Shiena、Takada Yui、Iwama Kazuhiro、Mizuguchi Takeshi、Matsumoto Naomichi、Morita Masashi、Takashima Shigeo、Shimozawa Nobuyuki、Takada Hidetoshi
  • Journal Title: Brain and Development Volume: 43 Issue: 3 Pages: 475-481
  • DOI: 10.1016/j.braindev.2020.10.011
  • Peer Reviewed
• [Journal Article] Clinical variations of epileptic syndrome associated with PACS2 variant (2021)
  • Author(s): Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N and Kato M
  • Journal Title: Brain Dev Volume: 43 Issue: 2 Pages: 343-347
  • DOI: 10.1016/j.braindev.2020.10.006
  • Peer Reviewed
• [Journal Article] De novo ATP1A3 variants cause polymicrogyria (2021)
  • Author(s): Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
  • Journal Title: Science Advances Volume: 7 Issue: 13 Pages: 2368-2368
  • DOI: 10.1126/sciadv.abd2368
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy (2021)
  • Author(s): Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
  • Journal Title: Hum Mutat Volume: 42 Issue: 1 Pages: 66-76
  • DOI: 10.1002/humu.24130
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2021)
  • Author(s): den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, HB, Itai T, Jackson A, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Kleefstra T, Reymond A, Fisher SE, Vissers LELM et al.
  • Journal Title: Am J Hum Genet. Volume: 108 Issue: 2 Pages: 346-356
  • DOI: 10.1016/j.ajhg.2021.01.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants (2020)
  • Author(s): Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
  • Journal Title: J Med Genet Volume: 0 Issue: 8 Pages: 106896-106896
  • DOI: 10.1136/jmedgenet-2020-106896
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Whole exome sequencing of fetal structural anomalies detected by ultrasonography (2020)
  • Author(s): Aoi Hiromi、Mizuguchi Takeshi、Suzuki Toshifumi、Makino Shintaro、Yamamoto Yuka...Takata Atsushi、Miyake Noriko、Takeda Satoru、Itakura Atsuo、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 5 Pages: 499-507
  • DOI: 10.1038/s10038-020-00869-8
  • Peer Reviewed
• [Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy (2020)
  • Author(s): Sakamoto Masamune、Iwama Kazuhiro、Sekiguchi Futoshi、Mashimo Hideaki、Kumada Satoko、Ishigaki Keiko、Okamoto Nobuhiko、Behnam Mahdiyeh、Ghadami Mohsen、Koshimizu Eriko、Miyatake Satoko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Saitsu Hirotomo、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 66 Issue: 4 Pages: 401-407
  • DOI: 10.1038/s10038-020-00853-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses (2020)
  • Author(s): Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
  • Journal Title: Human Mutation Volume: 42 Issue: 1 Pages: 50-65
  • DOI: 10.1002/humu.24129
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report (2020)
  • Author(s): Takase C, Shirai K, Matsumura Y, Watanabe T, Watanabe A, Hirasawa-Inoue A, Mizuguchi T, Matsumoto N, Sugai K and Hayashi M
  • Journal Title: Brain Dev Volume: 42 Issue: 8 Pages: 607-611
  • DOI: 10.1016/j.braindev.2020.05.002
  • Peer Reviewed
• [Journal Article] Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant (2020)
  • Author(s): Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T and Matsumoto N
  • Journal Title: Neurol Genet Volume: 6 Issue: 6
  • DOI: 10.1212/nxg.0000000000000527
  • Peer Reviewed
• [Journal Article] A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction (2020)
  • Author(s): Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N and Matsumoto N
  • Journal Title: J Hum Genet Volume: 65 Issue: 9 Pages: 751-757
  • DOI: 10.1038/s10038-020-0765-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy (2020)
  • Author(s): Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T, Yoshida T, Morita Y, Fujita A, Fukuda H, Miyake N, Mizuguchi T, Saito Y, Sekijima Y, Matsumoto N and Takahashi Y
  • Journal Title: Neurol Genet Volume: 6 Issue: 6
  • DOI: 10.1212/nxg.0000000000000531
  • Peer Reviewed
• [Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia (2020)
  • Author(s): Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
  • Journal Title: Hum Genome Var Volume: 7 Issue: 1 Pages: 43-43
  • DOI: 10.1038/s41439-020-00131-9
  • Peer Reviewed / Open Access
• [Journal Article] Clinical and genetic characteristics of patients with Doose syndrome (2020)
  • Author(s): Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
  • Journal Title: Epilepsia Open Volume: 5 Issue: 3 Pages: 442-450
  • DOI: 10.1002/epi4.12417
  • 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] Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy" (2020)
  • Author(s): Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N and Tanaka F
  • Journal Title: Ann Neurol Volume: 88 Issue: 3 Pages: 642-643
  • DOI: 10.1002/ana.25819
  • Peer Reviewed
• [Journal Article] Nonsense variants of STAG2 result in distinct congenital anomalies (2020)
  • Author(s): Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S and Matsumoto N
  • Journal Title: Hum Genome Var Volume: 7 Issue: 1 Pages: 26-26
  • DOI: 10.1038/s41439-020-00114-w
  • Peer Reviewed
• [Presentation] Applications of long-read sequencing technologies (LRS) in neurological and muscular diseases (2022)
  • Author(s): 水口 剛
  • Organizer: 日本人類遺伝学会第67回大会
  • Invited
• [Presentation] ロングリードシーケンサーを用いた疾患ゲノム・DNAメチル化解析 (2022)
  • Author(s): 水口 剛
  • Organizer: 第29回臨床細胞遺伝学セミナー
  • Invited
• [Presentation] ターゲットロングリードシーケンスを用いたリピート伸長変異解析 (2020)
  • Author(s): 水口剛
  • Organizer: 日本人類遺伝学会第65回大会
  • Invited
• [Remarks] 新技術ロングリード・シークエンサーで てんかんの原因となる繰り返し塩基配列の正確な配列を決定
  • URL: https://www.yokohama-cu.ac.jp/amedrc/news/20210401matsumoto_brain.html