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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

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Biochemistry, Genetics and Molecular Biology

Neuroscience