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Seizure phenotypes of a family with missense mutations in SCN2A

✍ Scribed by Masatoshi Ito; Yukiyoshi Shirasaka; Shinichi Hirose; Takashi Sugawara; Kazuhiro Yamakawa

No coin nor oath required. For personal study only.

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A Novel SCN2A Mutation in Family with Be

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Infantile seizures and other epileptic p

✍ Xihui Zhou; Aiqun Ma; Xiaohong Liu; Chen Huang; Yanmin Zhang; Ruiming Shi; Shiwe 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 154 KB

SCN2A Mutations and Benign Familial Neon

✍ Eric Herlenius; Sarah E. Heron; Bronwyn E. Grinton; Deborah Keay; Ingrid E. Sche 📂 Article 📅 2007 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 118 KB

A novel SCN1A missense mutation causes g

✍ Xiukun Cui; Feng Zeng; Ying Liu; Jing Zhang; Stephen Archacki; Tailan Zhan; Rong 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 664 KB

A missense mutation in PAX9 in a family

✍ Lammi, Laura; Halonen, Katri; Pirinen, Sinikka; Thesleff, Irma; Arte, Sirpa; Nie 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 156 KB

Mosaic SCN1A mutations in familial parti

✍ Y.-W. Shi; M.-J. Yu; Y.-S. Long; B. Qin; N. He; H. Meng; X.-R. Liu; W.-Y. Deng; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 806 KB