A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

Author:

Suzuki Toshimitsu12ORCID,Suzuki Toshifumi34ORCID,Raveau Matthieu2,Miyake Noriko3,Sudo Genki2,Tsurusaki Yoshinori35,Watanabe Takaki6,Sugaya Yuki6,Tatsukawa Tetsuya2,Mazaki Emi2,Shimohata Atsushi2,Kushima Itaru78,Aleksic Branko7,Shiino Tomoko7,Toyota Tomoko9,Iwayama Yoshimi9,Nakaoka Kentaro10,Ohmori Iori11,Sasaki Aya12,Watanabe Ken13,Hirose Shinichi14,Kaneko Sunao1516,Inoue Yushi10,Yoshikawa Takeo9,Ozaki Norio7,Kano Masanobu6,Shimoji Takeyoshi17,Matsumoto Naomichi3,Yamakawa Kazuhiro12ORCID

Affiliation:

1. Department of Neurodevelopmental Disorder Genetics Institute of Brain Science Nagoya City University Graduate School of Medical Science Nagoya Aichi 467‐8601 Japan

2. Laboratory for Neurogenetics RIKEN Center for Brain Science Wako Saitama 351‐0198 Japan

3. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Kanagawa 236‐0004 Japan

4. Department of Obstetrics and Gynecology Juntendo University Faculty of Medicine Tokyo 113‐8421 Japan

5. Faculty of Nutritional Science Sagami Women's University Sagamihara Kanagawa 252‐0383 Japan

6. Department of Neurophysiology Graduate School of Medicine The University of Tokyo Tokyo 113‐0033 Japan

7. Department of Psychiatry Nagoya University Graduate School of Medicine Nagoya Aichi 466‐8550 Japan

8. Medical Genomics Center Nagoya University Hospital Nagoya Aichi 466‐8560 Japan

9. Laboratory for Molecular Psychiatry RIKEN Center for Brain Science Wako Saitama 351‐0198 Japan

10. National Epilepsy Center NHO Shizuoka Institute of Epilepsy and Neurological Disorders Aoi‐ku Shizuoka 420‐8688 Japan

11. Department of Special Needs Education Okayama University Graduate School of Education Okayama 700‐8530 Japan

12. Department of Pathology and Laboratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa Chiba 272‐8513 Japan

13. Section of Bone Function Department of Bone and Joint Diseases National Center for Geriatrics and Gerontology (NCGG) Obu Aichi 474‐8511 Japan

14. Department of Pediatrics School of Medicine and Research Institute for the Molecular Pathomechanisms of Epilepsy Fukuoka University Fukuoka Fukuoka 814‐0180 Japan

15. Department of Neuropsychiatry Hirosaki University Graduate School of Medicine Hirosaki Aomori 036‐8562 Japan

16. North Tohoku Epilepsy Center Minato Hospital Hachinohe 031‐0813 Japan

17. Department of Neurosurgery Okinawa Pref. Nanbu Medical Center and Children’s Medical Center Arakawa Haebaru Okinawa 901‐1193 Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Takeda Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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