Title: 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.

Authors: T Sugawara, Y Tsurubuchi, K L Agarwala, M Ito, G Fukuma, E Mazaki-Miyazaki, H Nagafuji, M Noda, K Imoto, K Wada, A Mitsudome, S Kaneko, M Montal, K Nagata, S Hirose, K Yamakawa

Journal, date & volume: Proc. Natl. Acad. Sci. U.S.A., 2001 May 22 , 98, 6384-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11371648

Abstract