SCN1B

Species Homo sapiens
Alternate Name(s) GEFSP1
Epilepsy-Associated Disorder(s) generalized epilepsy with febrile seizures
Description sodium channel, voltage-gated, type I, beta
Chromosome 19
Locus 19q13.1
Mouse Homolog Scn1b
Reference(s) Aronica E, Troost D, Rozemuller AJ, Yankaya B, Jansen GH, Isom LL, Gorter JA. Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies. Acta Neuropathol (Berl). 2003 May;105(5):515-23. Epub 2003 Feb 20.

Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology. 2003 Sep 23;61(6):854-856.

Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R. A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol. 2008 Jul;65(7):943-51.Click here to read

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.

Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, McEwen DP, O'Malley HA, Bharucha V, Meadows LS, Knudsen GA, Vilaythong A, Noebels JL, Saunders TL, Scheuer T, Shrager P, Catterall WA, Isom LL. Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci. 2004 Apr 21;24(16):4030-42.

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.

Meadows LS, Malhotra J, Loukas A, Thyagarajan V, Kazen-Gillespie KA, Koopman MC, Kriegler S, Isom LL, Ragsdale DS. Functional and biochemical analysis of a sodium channel beta1 subunit mutation respo nsible for generalized epilepsy with febrile seizures plus type 1. J Neurosci. 2002 Dec 15;22(24):10699-709.

Moran O, Conti F. Skeletal muscle sodium channel is affected by an epileptogenic beta1 subunit mutation. Biochem Biophys Res Commun. 2001 Mar 23;282(1):55-9.

Moulard B, Buresi C, Malafosse A. Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). Hum Mutat. 2000;16(2):139-42.

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res. 2003 Oct;56(2-3):127-33.

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.

Tammaro P, Conti F, Moran O. Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. Biochem Biophys Res Commun. 2002 Mar 8;291(4):1095-101.

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. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2001 Apr;68(4):859-65. Epub 2001 Mar 13.

Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology. 2002 May 14;58(9):1426-9.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998 Aug;19(4):366-70.

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