De novo ATP1A3 variants cause polymicrogyria-Reference-Cited by-同舟云学术

De novo ATP1A3 variants cause polymicrogyria

Published:2021-03-26 Issue:13 Volume:7 Page:
ISSN:2375-2548
Container-title:Science Advances
language:en
Short-container-title:Sci. Adv.

Author:

Miyatake Satoko¹²^ORCID,Kato Mitsuhiro³^ORCID,Kumamoto Takuma⁴^ORCID,Hirose Tomonori⁵^ORCID,Koshimizu Eriko¹,Matsui Takaaki⁶^ORCID,Takeuchi Hideyuki⁷^ORCID,Doi Hiroshi⁷^ORCID,Hamada Keisuke⁸^ORCID,Nakashima Mitsuko¹⁹^ORCID,Sasaki Kazunori⁵,Yamashita Akio⁵,Takata Atsushi¹¹⁰^ORCID,Hamanaka Kohei¹,Satoh Mai¹,Miyama Takabumi¹,Sonoda Yuri¹¹^ORCID,Sasazuki Momoko¹¹,Torisu Hiroyuki¹¹¹²^ORCID,Hara Toshiro¹¹¹³^ORCID,Sakai Yasunari¹¹^ORCID,Noguchi Yushi¹⁴^ORCID,Miura Mazumi¹⁴^ORCID,Nishimura Yoko¹⁵^ORCID,Nakamura Kazuyuki¹⁶^ORCID,Asai Hideyuki³,Hinokuma Nodoka³^ORCID,Miya Fuyuki¹⁷¹⁸¹⁹^ORCID,Tsunoda Tatsuhiko¹⁷¹⁸¹⁹^ORCID,Togawa Masami²⁰^ORCID,Ikeda Yukihiro²¹,Kimura Nobusuke²²,Amemiya Kaoru²³^ORCID,Horino Asako²⁴^ORCID,Fukuoka Masataka²⁴^ORCID,Ikeda Hiroko²⁴^ORCID,Merhav Goni²⁵^ORCID,Ekhilevitch Nina²⁶^ORCID,Miura Masaki²⁷,Mizuguchi Takeshi¹^ORCID,Miyake Noriko¹,Suzuki Atsushi²⁸,Ohga Shouichi¹¹^ORCID,Saitsu Hirotomo¹⁹^ORCID,Takahashi Hidehisa⁵,Tanaka Fumiaki⁷^ORCID,Ogata Kazuhiro⁸^ORCID,Ohtaka-Maruyama Chiaki⁴^ORCID,Matsumoto Naomichi¹^ORCID

Affiliation:

1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.

2. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.

3. Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.

4. Developmental Neuroscience Project, Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.

5. Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.

6. Gene Regulation Research, Nara Institute of Science and Technology, Ikoma, Nara 630-0101, Japan.

7. Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.

8. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.

9. Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka 431-3192, Japan.

10. Laboratory for Molecular Pathology of Psychiatric Disorders, RIKEN Center for Brain Science, Wako, Saitama 351-0198, Japan.

11. Department of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.

12. Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka 814-0193, Japan.

13. Fukuoka Children’s Hospital, Fukuoka 813-0017, Japan.

14. Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.

15. Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.

16. Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan.

17. Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.

18. Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan.

19. Laboratory for Medical Science Mathematics, Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo 113-0033, Japan.

20. Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori 680-0901, Japan.

21. Department of Neonatology, Japanese Red Cross Otsu Hospital, Otsu, Shiga 520-8511, Japan.

22. Department of Pediatrics, Naniwa Ikuno Hospital, Osaka, Shiga 556-0014, Japan.

23. Department of Pediatrics, Saiwai Kodomo Clinic, Tachikawa 190-0002, Japan.

24. Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan.

25. Radiology Department, Rambam Health Care Campus, Haifa 3109601, Israel.

26. The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.

27. Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Niigata 940-2085, Japan.

28. Molecular Cellular Biology Laboratory, Yokohama City University Graduate School of Medical Life Science, Yokohama, Kanagawa 236-0004, Japan.

Abstract

ATP1A3 , a mutated gene for AHC, RDP, and CAPOS, is also associated with polymicrogyria by different functional variants.

Funder

Naito Foundation

Takeda Science Foundation

Japan Agency for Medical Research and Development

JSPS KAKENHI

Grant-in -Aid for Scientific Research on Innovative Areas “Interplay of developmental clock and extracellular environment in brain formation”

the Suntory Foundation for Life Sciences Bioorganic Research Institute

Neurological and Psychiatric Disorders of NCNP from the Ministry of Health, Labour and Welfare

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference38 articles.

1. Genetic Basis of Brain Malformations

2. Na⁺/K⁺-Pump Beta Subunits: Structure and Functions

3. Insights into the Pathology of the α3 Na+/K+-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models

4. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

5. Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

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