De novo ATP1A3 variants cause polymicrogyria

Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome sequencing for 124 patients with polymicrogyria and identified de novo ATP1A3 variants in eight patients. Mutated ATP1A3 causes functional brain diseases, including alternating he...

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Detalles Bibliográficos
Autores principales: Miyatake, Satoko, Kato, Mitsuhiro, Kumamoto, Takuma, Hirose, Tomonori, Koshimizu, Eriko, Matsui, Takaaki, Takeuchi, Hideyuki, Doi, Hiroshi, Hamada, Keisuke, Nakashima, Mitsuko, Sasaki, Kazunori, Yamashita, Akio, Takata, Atsushi, Hamanaka, Kohei, Satoh, Mai, Miyama, Takabumi, Sonoda, Yuri, Sasazuki, Momoko, Torisu, Hiroyuki, Hara, Toshiro, Sakai, Yasunari, Noguchi, Yushi, Miura, Mazumi, Nishimura, Yoko, Nakamura, Kazuyuki, Asai, Hideyuki, Hinokuma, Nodoka, Miya, Fuyuki, Tsunoda, Tatsuhiko, Togawa, Masami, Ikeda, Yukihiro, Kimura, Nobusuke, Amemiya, Kaoru, Horino, Asako, Fukuoka, Masataka, Ikeda, Hiroko, Merhav, Goni, Ekhilevitch, Nina, Miura, Masaki, Mizuguchi, Takeshi, Miyake, Noriko, Suzuki, Atsushi, Ohga, Shouichi, Saitsu, Hirotomo, Takahashi, Hidehisa, Tanaka, Fumiaki, Ogata, Kazuhiro, Ohtaka-Maruyama, Chiaki, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990330/
https://www.ncbi.nlm.nih.gov/pubmed/33762331
http://dx.doi.org/10.1126/sciadv.abd2368

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