De novo PHACTR1 mutations in West syndrome and their pathophysiological effects

Hamada, Nanako
Ogaya, Shunsuke
Nakashima, Mitsuko
Nishijo, Takuma
Sugawara, Yuji
Iwamoto, Ikuko
Ito, Hidenori
Maki, Yuki
Shirai, Kentaro
Baba, Shimpei
Maruyama, Koichi
Saitsu, Hirotomo
Kato, Mitsuhiro
Matsumoto, Naomichi
Momiyama, Toshihiko
Nagata, Koh-ichi

Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan
Research Fellow of Japan Society for the Promotion of Science, Japan
Department of Pediatric Neurology, Central Hospital, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Japan
Department of Pharmacology, Jikei University School of Medicine, 3-19-18 Nishishimbashi, Minato-ku, Tokyo, Japan
Department of Pediatrics, Soka Municipal Hospital, 2-21-1 Soka, Soka, Saitama, Japan
Department of Pediatrics, Tsuchiura Kyodo Hospital, 4-1-1 Ootsuno, Tsuchiura, Ibaraki, Japan
Department of Child Neurology, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Naka-ku, Hamamatsu, Shizuoka, Japan
Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Japan
Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan
Department of Neurochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, Japan

Correspondence to: Dr Koh-ichi Nagata Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi 480-0392, Japan E-mail: [email protected]

Correspondence may also be addressed to: Prof Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan E-mail: [email protected]

Nanako Hamada, Shunsuke Ogaya and Mitsuko Nakashima authors contributed equally to this work.

This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)

Received February 2, 2018

Received in revised form August 1, 2018

Accepted August 2, 2018

Brain 141(11):p 3098-3114, November 2018. | DOI: 10.1093/brain/awy246