Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Satoshi Akamine, Noriaki Sagata, Yasunari Sakai, Takahiro A. Kato, Takeshi Nakahara, Yuki Matsushita, Osamu Togao, Akio Hiwatashi, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara, Akira Sawa, Shinichi Kano, Masutaka Furue, Shigenobu Kanba, Chad A. Shaw, Shouichi Ohga

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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Medicine & Life Sciences