The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels. Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2q24, types I, II (Nav1.2), and III (Nav1.3). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (Nav1.4 and Nav1.5, respectively).
On 29 November 2008, The Sydney Morning Herald reported the first evidence of private intellectual property rights over human DNA having adversely affected medical care. The Melbourne company Genetic Technologies (GTG) controls rights to the gene, and requires royalties for tests on the gene, which can help identify Dravet syndrome. Doctors on the Children's Hospital in Westmead, Australia have told journalists that they would test 50% more infants for the gene, if they could conduct the test on site.
^Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (April 2000). "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2". Nat. Genet.24 (4): 343–5. doi:10.1038/74159. PMID10742094.
^Spampanato J, Escayg A, Meisler MH, Goldin AL (October 2001). "Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2". J. Neurosci.21 (19): 7481–90. PMID11567038.
^Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F (June 2003). "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy". Neurology60 (12): 1961–7. doi:10.1212/01.wnl.0000069463.41870.2f. PMID12821740.
^Lossin C. "SCN1A infobase". Retrieved 2009-10-30. "compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1"
^Gee, S H; Madhavan R, Levinson S R, Caldwell J H, Sealock R, Froehner S C (Jan 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. (UNITED STATES) 18 (1): 128–37. ISSN0270-6474. PMID9412493.Cite uses deprecated parameters (help)
Oguni H, Hayashi K, Osawa M, et al. (2004). "Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort". Advances in neurology95: 103–17. PMID15508916.
Malo MS, Blanchard BJ, Andresen JM, et al. (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenet. Cell Genet.67 (3): 178–86. doi:10.1159/000133818. PMID8062593.
Sugawara T, Mazaki-Miyazaki E, Ito M, et al. (2001). "Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures". Neurology57 (4): 703–5. doi:10.1212/wnl.57.4.703. PMID11524484.
Abou-Khalil B, Ge Q, Desai R, et al. (2003). "Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation". Neurology57 (12): 2265–72. PMID11756608.
Ito M, Nagafuji H, Okazawa H, et al. (2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Res.48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID11823106.