SCN2A1

Species Homo sapiens
Alternate Name(s) NAC2, HBSCI, SCN2A, BFIC3
Epilepsy-Associated Disorder(s) benign familial neonatal-infantile seizures
Description sodium channel, voltage-gated, type II, alpha 1
Chromosome 2
Locus 2q22-q23
Reference(s) Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet. 1999 Oct;65(4):1078-85.

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004 Apr;55(4):550-7.

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia. 2004 Feb;45(2):149-58.

Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger CE, Propping P, Heils A. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res. 2001 Dec;47(3):243-6.

Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF. SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum. Epilepsia. 2007 Mar 26.

Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002 Sep 14;360(9336):851-2.

Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci. 2004 Mar 17;24(11):2690-8.

Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, Waxman SG, Goldin AL, Meisler MH. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. 2001;102(2):307-17.

Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. Molecular basis of an inherited epilepsy. Neuron. 2002 Jun 13;34(6):877-84.

Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B, dalla Bernardina B, Bianchi A, Bonanni P, De Marco P, Gambardella A, Giordano L, Lispi ML, Romeo A, Santorum E, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri F, Bricarelli FD, Zara F. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am J Hum Genet. 2001 Jun;68(6):1521-6. Epub 2001 Apr 20.

Nakayama J, Yamamoto N, Hamano K, Iwasaki N, Ohta M, Nakahara S, Horigome Y, Nakahara C, Noguchi E, Shiono J, Shimakura Y, Yamakawa-Kobayashi K, Matsui A, Arinami T. Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans. Neurosci Lett. 2002 Aug 30;329(2):249-51.

Spampanato J, Aradi I, Soltesz I, Goldin AL. Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. J Neurophysiol. 2004 May;91(5):2040-50. Epub 2003 Dec 31.

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. 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. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9.

Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003 Feb;8(2):186-94.

Xiao B, Deng FY, Xiong G, Wang K, Zhang J, Chen XD, Liu YZ, Deng HW. Clinical and genetic study on a new Chinese family with benign familial infantile seizures. Eur J Neurol. 2005 May;12(5):344-9.

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