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A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K. Sugawara T, et al. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. doi: 10.1073/pnas.111065098. Proc Natl Acad Sci U S A. 2001. PMID: 11371648 Free PMC article.