Identification of mutations
Functional study
Review and anlysis
SCN1A publications on functional studies list
Choose a classification of functional study publications     
Total items found: 32
NumberFirst author/YearAll of AuthorsTitleCitationPubmedID
1Alekov A/2000Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.J Physiol. 2000 Dec 15;529 Pt 3:533-9. 11118488
2Alekov AK/2001Alekov AK, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H.Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.Eur J Neurosci. 2001 Jun;13(11):2171-6. 11422459
3Barela AJ/2006Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A.An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.J Neurosci. 2006 Mar 8;26(10):2714-23. 16525050
4Baulac S/1999Baulac 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. 10486327
5Bechi G/2012Bechi G, Scalmani P, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M.Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.Epilepsia. 2012 Jan;53(1):87-100. 22150645
6Cest/2013Cestèle S, Labate A, Rusconi R, Tarantino P, Mumoli L, Franceschetti S, Annesi G, Mantegazza M, Gambardella A.Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.Epilepsia. 2013 May;54(5):927-35. 23398611
7Chen YJ/2014Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.Mol Neurobiol. 2014 Jul 3. [Epub ahead of print] 24990319
8Cossette P/2003Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA.Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).Epilepsy Res. 2003 Feb;53(1-2):107-17. 12576172
9Grant AC/2005Grant AC, Vazquez B.A case of extended spectrum GEFS+.Epilepsia. 2005;46 Suppl 10:39-40. 16359470
10Kahlig KM/2008Kahlig KM, Saridey SK, Kaja A, Daniels MA, George AL Jr, Wilson MH.Multiplexed transposon-mediated stable gene transfer in human cells.Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1343-8. 20080581
11Liao WP/2010Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S.Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.Epilepsia. 2010 Sep;51(9):1669-78. 20550552
12Liu Y/2013Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM.Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.Ann Neurol. 2013 Jul;74(1):128-39. 23821540
13Lopes-Cendes I/2000Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA.A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.Am J Hum Genet. 2000 Feb;66(2):698-701. 10677328
14Lossin C/2003Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL Jr.Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.J Neurosci. 2003 Dec 10;23(36):11289-95. 14672992
15Lossin C/2002 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. 12086636
16Mantegazza M/2005Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A.Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. 16326807
17Meng H/2013Meng H, Tang B, Yi Y-H, Liao WP. Splice-site mutations in SCN1A cause epilepsies with febrile seizures: mechanisms and correlations with clinical severity.The 31th International Epilepsy Congress Proceedings. Epilepsia 2013: 54(Suppl.3): 30-340. -
18Moulard B/1999Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, Malafosse A.Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.Am J Hum Genet. 1999 Nov;65(5):1396-400. 10521305
19Nakayama T/2010Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K.Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.Hum Mutat. 2010 Jul;31(7):820-9. 20506560
20Ohmori I/2006Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr.Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.Epilepsia. 2006 Oct;47(10):1636-42. 17054685
21Ohmori I/2008Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y.Rasmussen encephalitis associated with SCN 1 A mutation.Epilepsia. 2008 Mar;49(3):521-6. 18031552
22Rhodes TH/2004 Rhodes TH, Lossin C, Vanoye CG, Wang DW, George AL Jr.Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.Proc Natl Acad Sci U S A. 2004 Jul 27;101(30):11147-52. 15263074
23Rhodes TH/2005Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr.Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.J Physiol. 2005 Dec 1;569(Pt 2):433-45. 16210358
24Rusconi R/2007Rusconi R, Scalmani P, Cassulini RR, Giunti G, Gambardella A, Franceschetti S, Annesi G, Wanke E, Mantegazza M.Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.Neurosci. 2007 Oct 10;27(41):11037-46 17928445
25Rusconi R/2009Rusconi R, Combi R, Cestèle S, Grioni D, Franceschetti S, Dalprà L, Mantegazza M.A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?Hum Mutat. 2009 Jul;30(7):E747-60. 19402159
26Spampanato J/2001Spampanato J, Escayg A, Meisler MH, Goldin AL.Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.J Neurosci. 2001 Oct 1;21(19):7481-90. 11567038
27Spampanato J/2003Spampanato J, Escayg A, Meisler MH, Goldin AL.Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.Neuroscience. 2003;116(1):37-48. 12535936
28Spampanato J/2004Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH.A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.J Neurosci. 2004 Nov 3;24(44):10022-34. 15525788
29Sugawara T/2003Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K.Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.Epilepsy Res. 2003 May;54(2-3):201-7. 12837571
30Sugiura Y/2012Sugiura Y, Ogiwara I, Hoshi A, Yamakawa K, Ugawa Y.Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.Epilepsia. 2012 Jun;53(6):e111-4. 22525008
31Volkers L/2011Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB.Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.Eur J Neurosci. 2011 Oct;34(8):1268-75. 21864321
32Zeng T./2014Zeng T, Dong ZF, Liu SJ, Wan RP, Tang LJ, Liu T, Zhao QH, Shi YW, Yi YH, Liao WP, Long YS.A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.Hum Genet. 2014 Jun;133(6):801-11. 24464349