KODERA HIROFUMI 小寺啓文

Researcher Number	70637884
Affiliation (based on the past Project Information) *help	2015: 横浜市立大学, 医学(系)研究科(研究院), 博士研究員 2015: 横浜市立大学, 医学(系)研究科(研究院), 特任助手 2015: 横浜市立大学, 博士研究員 2014: 横浜市立大学, 医学(系)研究科(研究院), 客員研究員
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Human genetics
Keywords	Principal Investigator アミノアシル化 / アミノアシルtRNA合成酵素 / QARS / 全エクソーム解析 / てんかん性脳症 Except Principal Investigator ゲノム / てんかん / 遺伝学 / 乳児てんかん / エクソーム解析 / てんかん性脳症 / 遺伝子変異

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyPrincipal Investigator
- Principal Investigator
  
  KODERA Hirofumi
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University
Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis
- Principal Investigator
  
  Saitsu Hirotomo
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
  Yokohama City University

All 2015 2014 2013 Other

All Journal Article Presentation

[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Pages: 97-101
- NAID
  40020368024
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293085
[Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation2015
- Author(s)
  17.Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
- Journal Title
  
  Clin Genet
  
  Volume: 87 Issue: 5 Pages: 455-460
- DOI
  10.1111/cge.12417
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26460878, KAKENHI-PROJECT-26860816
[Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy.2015
- Author(s)
  Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: 56(9) Issue: 9
- DOI
  10.1111/epi.13072
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-26860832, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015
- Author(s)
  Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 60(2) Issue: 2 Pages: 97-101
- DOI
  10.1038/jhg.2014.103
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-21115004, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2015
- Author(s)
  ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
- Journal Title
  
  Epilepsia
  
  Volume: 57 Issue: 4 Pages: 566-573
- DOI
  10.1111/epi.13344
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293235, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-15K19660
[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015
- Author(s)
  Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
- Journal Title
  
  Epilepsia
  
  Volume: 印刷中 Issue: 6 Pages: 841-848
- DOI
  10.1111/epi.12987
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26860816, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes2014
- Author(s)
  Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
- Journal Title
  
  Clin Genet
  
  Volume: 85（4） Issue: 4 Pages: 396-398
- DOI
  10.1111/cge.12188
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-26860816
[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014
- Author(s)
  Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
- Journal Title
  
  Nat Commun
  
  Volume: 5 Issue: 1 Pages: 4011-4011
- DOI
  10.1038/ncomms5011
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-26860816
[Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014
- Author(s)
  Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
- Journal Title
  
  Epilepsia
  
  Volume: 55 Issue: 2 Pages: 13-17
- DOI
  10.1111/epi.12508
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816
[Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013
- Author(s)
  Nakamura, K., et al.,
- Journal Title
  
  Am. J. Hum. Genet.
  
  Volume: 93 Issue: 3 Pages: 496-505
- DOI
  10.1016/j.ajhg.2013.07.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23500444, KAKENHI-PROJECT-23612008, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24659508, KAKENHI-PROJECT-25293052, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013
- Author(s)
  Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
- Journal Title
  
  Hum Mutat
  
  Volume: 34 Issue: 12 Pages: 1708-1714
- DOI
  10.1002/humu.22446
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-23591497, KAKENHI-PUBLICLY-24110501, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013
- Author(s)
  Kato M, …Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: in press Issue: 7 Pages: 1282-7
- DOI
  10.1111/epi.12200
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013
- Author(s)
  Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
- Journal Title
  
  Epilepsia
  
  Volume: 54 Issue: 7 Pages: 1262-1269
- DOI
  10.1111/epi.12203
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Presentation] 先天性糖鎖合成異常症の新規原因遺伝子COG2の同定
- Author(s)
  小寺啓文、安藤直樹、湯浅勲、和田芳直、鶴崎美徳、中島光子、三宅紀子、齋藤伸治、松本直通、才津浩智
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26860816
[Presentation] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
- Author(s)
  Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H.
- Organizer
  The American Society of Human Genetics 64th Annual Meeting
- Place of Presentation
  San Diego, CA, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26860816

1. Saitsu Hirotomo (40402838)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
2. ISHI Shunsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. MURAKAMI Yoshiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. TANAKA Kiyoji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 和田芳直

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
6. 中村春木

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
8. 鶴崎美徳

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 緒方一博

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
10. 山下暁朗

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 三宅紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KODERA HIROFUMI 小寺 啓文

Research Projects

Research Products

Co-Researchers

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013

Author(s)

Journal Title

DOI

KODERA HIROFUMI 小寺啓文