De novo PHACTR1 mutations in West syndrome and their pathophysiological effects

Author:

Hamada Nanako12,Ogaya Shunsuke3,Nakashima Mitsuko4,Nishijo Takuma5,Sugawara Yuji6,Iwamoto Ikuko1,Ito Hidenori1,Maki Yuki3,Shirai Kentaro7,Baba Shimpei8,Maruyama Koichi3,Saitsu Hirotomo9,Kato Mitsuhiro10,Matsumoto Naomichi4,Momiyama Toshihiko5,Nagata Koh-ichi111

Affiliation:

1. Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan

2. Research Fellow of Japan Society for the Promotion of Science, Japan

3. Department of Pediatric Neurology, Central Hospital, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan

4. Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Japan

5. Department of Pharmacology, Jikei University School of Medicine, 3-19-18 Nishishimbashi, Minato-ku, Tokyo, Japan

6. Department of Pediatrics, Soka Municipal Hospital, 2-21-1 Soka, Soka, Saitama, Japan

7. Department of Pediatrics, Tsuchiura Kyodo Hospital, 4-1-1 Ootsuno, Tsuchiura, Ibaraki, Japan

8. Department of Child Neurology, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Naka-ku, Hamamatsu, Shizuoka, Japan

9. Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Japan

10. Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan

11. Department of Neurochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, Japan

Funder

JSPS KAKENHI

AMED

Japan Science and Technology Agency

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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