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XB-GENEPAGE-978018
Papers associated with scn1a
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Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity., Scalise S, Zannino C, Lucchino V, Lo Conte M, Scaramuzzino L, Cifelli P, D'Andrea T, Martinello K, Fucile S, Palma E, Gambardella A, Ruffolo G, Cuda G, Parrotta EI., Biomedicines. May 5, 2022; 10 (5): |
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Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions., Anderson LL, Absalom NL, Abelev SV, Low IK, Doohan PT, Martin LJ, Chebib M, McGregor IS, Arnold JC., Epilepsia. November 1, 2019; 60 (11): 2224-2234.  |
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Genomic Takeover by Transposable Elements in the Strawberry Poison Frog., Rogers RL, Zhou L, Chu C, Márquez R, Corl A, Linderoth T, Freeborn L, MacManes MD, Xiong Z, Zheng J, Guo C, Xun X, Kronforst MR, Summers K, Wu Y, Yang H, Richards-Zawacki CL, Zhang G, Nielsen R., Mol Biol Evol. December 1, 2018; 35 (12): 2913-2927.  |
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A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C, Aronica E, Palma E., Epilepsia. November 1, 2018; 59 (11): 2106-2117. |
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Metergoline inhibits the neuronal Nav1.2 voltage-dependent Na(+) channels expressed in Xenopus oocytes., Lee JH, Liu J, Shin M, Hong M, Nah SY, Bae H., Acta Pharmacol Sin. July 1, 2014; 35 (7): 862-8.  |
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Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents., Gilchrist J, Dutton S, Diaz-Bustamante M, McPherson A, Olivares N, Kalia J, Escayg A, Bosmans F., ACS Chem Biol. May 16, 2014; 9 (5): 1204-12.  |
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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies., Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF., Epilepsia. July 1, 2013; 54 (7): 1270-81. |
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy., Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R., Nat Genet. November 1, 2012; 44 (11): 1255-9. |
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μ-Conotoxins that differentially block sodium channels NaV1.1 through 1.8 identify those responsible for action potentials in sciatic nerve., Wilson MJ, Yoshikami D, Azam L, Gajewiak J, Olivera BM, Bulaj G, Zhang MM., Proc Natl Acad Sci U S A. June 21, 2011; 108 (25): 10302-7. |
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Synthesis, solution structure, and phylum selectivity of a spider delta-toxin that slows inactivation of specific voltage-gated sodium channel subtypes., Yamaji N, Little MJ, Nishio H, Billen B, Villegas E, Nishiuchi Y, Tytgat J, Nicholson GM, Corzo G., J Biol Chem. September 4, 2009; 284 (36): 24568-82. |
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A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL., J Neurosci. August 26, 2009; 29 (34): 10764-78. |
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Human and rat Nav1.3 voltage-gated sodium channels differ in inactivation properties and sensitivity to the pyrethroid insecticide tefluthrin., Tan J, Soderlund DM., Neurotoxicology. January 1, 2009; 30 (1): 81-9. |
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Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine., Tavraz NN, Dürr KL, Koenderink JB, Freilinger T, Bamberg E, Dichgans M, Friedrich T., Channels (Austin). January 1, 2009; 3 (2): 82-7. |
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An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability., Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A., J Neurosci. March 8, 2006; 26 (10): 2714-23. |
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A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction., Spampanato 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., J Neurosci. November 3, 2004; 24 (44): 10022-34. |
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Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus., Spampanato J, Aradi I, Soltesz I, Goldin AL., J Neurophysiol. May 1, 2004; 91 (5): 2040-50. |
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Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL, Bianchi MT, Bianch MT, Feng H., Exp Neurol. November 1, 2003; 184 Suppl 1 S58-67. |
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Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels., Spampanato J, Escayg A, Meisler MH, Goldin AL., Neuroscience. January 1, 2003; 116 (1): 37-48. |
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Repressor element-1 silencing transcription/neuron-restrictive silencer factor is required for neural sodium channel expression during development of Xenopus., Armisén R, Fuentes R, Olguín P, Cabrejos ME, Kukuljan M., J Neurosci. October 1, 2002; 22 (19): 8347-51.  |
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Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2., Spampanato J, Escayg A, Meisler MH, Goldin AL., J Neurosci. October 1, 2001; 21 (19): 7481-90. |
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cDNA cloning and its pronephros-specific expression of the Wilms' tumor suppressor gene, WT1, from Xenopus laevis., Semba K, Saito-Ueno R, Takayama G, Kondo M., Gene. October 10, 1996; 175 (1-2): 167-72.  |
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Chromosome-bound mitotic factors: release by endonucleases., Adlakha RC, Sahasrabuddhe CG, Wright DA, Lindsey WF, Smith ML, Rao PN., Nucleic Acids Res. July 10, 1982; 10 (13): 4107-17. |
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