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Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.
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.