| Year |
Citation |
Score |
| 2023 |
Shiu FH, Wong JC, Bhattacharya D, Kuranaga Y, Parag RR, Alsharif HA, Bhatnagar S, Van Meir EG, Escayg A. Generation and initial characterization of mice lacking full length BAI3 (ADGRB3) expression. Basic & Clinical Pharmacology & Toxicology. PMID 37337931 DOI: 10.1111/bcpt.13917 |
0.323 |
|
| 2023 |
Knierim E, Vogt J, Kintscher M, Ponomarenko A, Baumgart J, Beed P, Korotkova T, Trimbuch T, Panzer A, Steinlein OK, Stephani U, Escayg A, Koko M, Liu Y, Lerche H, et al. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype. Cerebral Cortex (New York, N.Y. : 1991). PMID 36977636 DOI: 10.1093/cercor/bhad051 |
0.524 |
|
| 2022 |
Shapiro L, Escayg A, Wong JC. Cannabidiol Increases Seizure Resistance and Improves Behavior in an Mouse Model. Frontiers in Pharmacology. 13: 815950. PMID 35153788 DOI: 10.3389/fphar.2022.815950 |
0.571 |
|
| 2022 |
Shiu FH, Wong JC, Yamamoto T, Lala T, Purcell RH, Owino S, Zhu D, Van Meir EG, Hall RA, Escayg A. Mice lacking full length Adgrb1 (Bai1) exhibit social deficits, increased seizure susceptibility, and altered brain development. Experimental Neurology. 113994. PMID 35114205 DOI: 10.1016/j.expneurol.2022.113994 |
0.351 |
|
| 2021 |
Wong JC, Butler KM, Shapiro L, Thelin JT, Mattison KA, Garber KB, Goldenberg PC, Kubendran S, Schaefer GB, Escayg A. Pathogenic in-Frame Variants in : Expanding the Genetic Landscape of Associated Disease. Frontiers in Pharmacology. 12: 748415. PMID 34867351 DOI: 10.3389/fphar.2021.748415 |
0.545 |
|
| 2021 |
Wong JC, Grieco SF, Dutt K, Chen L, Thelin JT, Inglis GAS, Parvin S, Garraway SM, Xu X, Goldin AL, Escayg A. Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 33658654 DOI: 10.1038/s41386-021-00985-9 |
0.58 |
|
| 2021 |
Shapiro L, Gado F, Manera C, Escayg A. Allosteric modulation of the cannabinoid 2 receptor confers seizure resistance in mice. Neuropharmacology. 108448. PMID 33450277 DOI: 10.1016/j.neuropharm.2021.108448 |
0.456 |
|
| 2020 |
Wong JC, Shapiro L, Thelin JT, Heaton EC, Zaman RU, D'Souza MJ, Murnane KS, Escayg A. Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy. Neurobiology of Disease. 105147. PMID 33189882 DOI: 10.1016/j.nbd.2020.105147 |
0.514 |
|
| 2020 |
Inglis GAS, Zhou Y, Patterson DG, Scharer CD, Han Y, Boss JM, Wen Z, Escayg A. Transcriptomic and epigenomic dynamics associated with development of human iPSC-derived GABAergic interneurons. Human Molecular Genetics. PMID 32794569 DOI: 10.1093/Hmg/Ddaa150 |
0.337 |
|
| 2019 |
Shapiro L, Wong JC, Escayg A. Reduced cannabinoid 2 receptor activity increases susceptibility to induced seizures in mice. Epilepsia. PMID 31758544 DOI: 10.1111/Epi.16388 |
0.584 |
|
| 2019 |
Inglis GAS, Wong JC, Butler KM, Thelin JT, Mistretta OC, Wu X, Lin X, English AW, Escayg A. Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na 1.6 sodium channels. Genes, Brain, and Behavior. e12612. PMID 31605437 DOI: 10.1111/Gbb.12612 |
0.602 |
|
| 2019 |
Wong JC, Thelin JT, Escayg A. Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome. Annals of Clinical and Translational Neurology. 6: 1566-1571. PMID 31402621 DOI: 10.1002/Acn3.50848 |
0.554 |
|
| 2019 |
Jenkins A, Escayg A. Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain : a Journal of Neurology. 142: e16. PMID 31032848 DOI: 10.1093/Brain/Awz086 |
0.524 |
|
| 2019 |
Wong JC, Escayg A. From DREADD to Treatment in Temporal Lobe Epilepsy. Epilepsy Currents. 19: 47-48. PMID 30838921 DOI: 10.1177/1535759718822035 |
0.501 |
|
| 2019 |
Salgueiro-Pereira AR, Duprat F, Pousinha P, Loucif A, Douchamps V, Regondi C, Ayrault M, Eugie M, Stunault MI, Escayg A, Goutagny R, Gnatkovsky V, Frassoni C, Marie H, Bethus I, et al. A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. Neurobiology of Disease. PMID 30659983 DOI: 10.1016/J.Nbd.2019.01.006 |
0.658 |
|
| 2018 |
Butler KM, Holt PJ, Milla SS, da Silva C, Alexander JJ, Escayg A. Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants. Case Reports in Genetics. 2018: 6308283. PMID 30410802 DOI: 10.1155/2018/6308283 |
0.469 |
|
| 2018 |
Mattison KA, Butler KM, Inglis GAS, Dayan O, Boussidan H, Bhambhani V, Philbrook B, da Silva C, Alexander JJ, Kanner BI, Escayg A. SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport. Epilepsia. PMID 30132828 DOI: 10.1111/Epi.14531 |
0.461 |
|
| 2018 |
Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. Brain : a Journal of Neurology. PMID 29961870 DOI: 10.1093/Brain/Awy171 |
0.496 |
|
| 2018 |
Wong JC, Makinson CD, Lamar T, Cheng Q, Wingard JC, Terwilliger EF, Escayg A. Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy. Scientific Reports. 8: 126. PMID 29317669 DOI: 10.1038/S41598-017-17786-0 |
0.564 |
|
| 2017 |
Butler KM, da Silva C, Alexander JJ, Hegde M, Escayg A. Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. Pediatric Neurology. PMID 29056246 DOI: 10.1016/J.Pediatrneurol.2017.09.003 |
0.443 |
|
| 2017 |
Giddens MM, Wong JC, Schroeder JP, Farrow EG, Smith BM, Owino S, Soden SE, Meyer RC, Saunders C, LePichon JB, Weinshenker D, Escayg A, Hall RA. GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant. Neurobiology of Disease. PMID 28688853 DOI: 10.1016/J.Nbd.2017.07.006 |
0.549 |
|
| 2017 |
Rha J, Jones SK, Fidler J, Banerjee A, Leung SW, Morris KJ, Wong JC, Inglis GAS, Shapiro L, Deng Q, Cutler AA, Hanif AM, Pardue MT, Schaffer A, Seyfried NT, ... ... Escayg A, et al. The RNA-binding Protein, ZC3H14, is Required for Proper Poly(A) Tail Length Control, Expression of Synaptic Proteins, and Brain Function in Mice. Human Molecular Genetics. PMID 28666327 DOI: 10.1093/Hmg/Ddx248 |
0.349 |
|
| 2017 |
Dutton SB, Dutt K, Papale LA, Helmers S, Goldin AL, Escayg A. Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. Experimental Neurology. PMID 28373025 DOI: 10.1016/J.Expneurol.2017.03.026 |
0.851 |
|
| 2017 |
Makinson CD, Tanaka BS, Sorokin JM, Wong JC, Christian CA, Goldin AL, Escayg A, Huguenard JR. Regulation of Thalamic and Cortical Network Synchrony by Scn8a. Neuron. PMID 28238546 DOI: 10.1016/J.Neuron.2017.01.031 |
0.592 |
|
| 2017 |
Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SB, Jorge BS, Velinov M, Escayg A, Kearney JA. SCN3A deficiency associated with increased seizure susceptibility. Neurobiology of Disease. PMID 28235671 DOI: 10.1016/J.Nbd.2017.02.006 |
0.851 |
|
| 2016 |
Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Research. 129: 17-25. PMID 27875746 DOI: 10.1016/J.Eplepsyres.2016.11.002 |
0.463 |
|
| 2016 |
Wong JC, Dutton SB, Collins SD, Schachter S, Escayg A. Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice. Frontiers in Pharmacology. 7: 357. PMID 27799911 DOI: 10.3389/Fphar.2016.00357 |
0.845 |
|
| 2015 |
Sawyer NT, Helvig AW, Makinson CD, Decker MJ, Neigh GN, Escayg A. Scn1a dysfunction alters behavior but not the effect of stress on seizure response. Genes, Brain, and Behavior. PMID 26694226 DOI: 10.1111/Gbb.12281 |
0.628 |
|
| 2015 |
Wong JC, Escayg A. Illuminating the Cerebellum as a Potential Target for Treating Epilepsy. Epilepsy Currents / American Epilepsy Society. 15: 277-8. PMID 26448735 DOI: 10.5698/1535-7511-15.5.277 |
0.425 |
|
| 2015 |
Makinson CD, Dutt K, Lin F, Papale LA, Shankar A, Barela AJ, Liu R, Goldin AL, Escayg A. An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Experimental Neurology. PMID 26410685 DOI: 10.1016/J.Expneurol.2015.09.008 |
0.636 |
|
| 2015 |
Goldin AL, Escayg A. Complex genetic interactions in a mouse model of absence epilepsy. Epilepsy Currents / American Epilepsy Society. 15: 50-1. PMID 25678893 DOI: 10.5698/1535-7597-15.1.50 |
0.407 |
|
| 2014 |
Hedrich UB, Liautard C, Kirschenbaum D, Pofahl M, Lavigne J, Liu Y, Theiss S, Slotta J, Escayg A, Dihné M, Beck H, Mantegazza M, Lerche H. Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 14874-89. PMID 25378155 DOI: 10.1523/Jneurosci.0721-14.2014 |
0.582 |
|
| 2014 |
Escayg A, Wong JC. Toward routine genetics-based diagnoses for the epileptic encephalopathies. Epilepsy Currents / American Epilepsy Society. 14: 158-60. PMID 24940165 DOI: 10.5698/1535-7597-14.3.158 |
0.324 |
|
| 2014 |
Makinson CD, Tanaka BS, Lamar T, Goldin AL, Escayg A. Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. Neurobiology of Disease. 68: 16-25. PMID 24704313 DOI: 10.1016/J.Nbd.2014.03.014 |
0.611 |
|
| 2014 |
Gilchrist J, Dutton S, Diaz-Bustamante M, McPherson A, Olivares N, Kalia J, Escayg A, Bosmans F. Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents. Acs Chemical Biology. 9: 1204-12. PMID 24635129 DOI: 10.1021/Cb500108P |
0.819 |
|
| 2014 |
Sawyer NT, Papale LA, Eliason J, Neigh GN, Escayg A. Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress. Psychoneuroendocrinology. 39: 225-36. PMID 24138934 DOI: 10.1016/J.Psyneuen.2013.09.018 |
0.564 |
|
| 2013 |
Purcell RH, Papale LA, Makinson CD, Sawyer NT, Schroeder JP, Escayg A, Weinshenker D. Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice. Psychopharmacology. 228: 263-70. PMID 23494229 DOI: 10.1007/S00213-013-3034-8 |
0.589 |
|
| 2013 |
Distler MG, Gorfinkle N, Papale LA, Wuenschell GE, Termini J, Escayg A, Winawer MR, Palmer AA. Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility. Epilepsia. 54: 649-57. PMID 23409935 DOI: 10.1111/Epi.12121 |
0.55 |
|
| 2013 |
Papale LA, Makinson CD, Christopher Ehlen J, Tufik S, Decker MJ, Paul KN, Escayg A. Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). Epilepsia. 54: 625-34. PMID 23311867 DOI: 10.1111/Epi.12060 |
0.411 |
|
| 2013 |
Dutton SB, Makinson CD, Papale LA, Shankar A, Balakrishnan B, Nakazawa K, Escayg A. Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility. Neurobiology of Disease. 49: 211-20. PMID 22926190 DOI: 10.1016/J.Nbd.2012.08.012 |
0.843 |
|
| 2012 |
Chan CB, Chen Y, Liu X, Papale L, Escayg A, Mei L, Ye K. Essential role of PIKE GTPases in neuronal protection against excitotoxic insults. Advances in Biological Regulation. 52: 66-76. PMID 21925531 DOI: 10.1016/J.Advenzreg.2011.09.012 |
0.317 |
|
| 2012 |
Sawyer⁎ N, Escayg A. Hypothalamic-pituitary-adrenal (HPA) axis function in voltage-gated sodium channel mutants Epilepsy & Behavior. 24: 187-188. DOI: 10.1016/j.yebeh.2011.04.029 |
0.301 |
|
| 2011 |
Dutton SB, Sawyer NT, Kalume F, Jumbo-Lucioni P, Borges K, Catterall WA, Escayg A. Protective effect of the ketogenic diet in Scn1a mutant mice. Epilepsia. 52: 2050-6. PMID 21801172 DOI: 10.1111/J.1528-1167.2011.03211.X |
0.823 |
|
| 2011 |
Hawkins NA, Martin MS, Frankel WN, Kearney JA, Escayg A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiology of Disease. 41: 655-60. PMID 21156207 DOI: 10.1016/J.Nbd.2010.11.016 |
0.868 |
|
| 2010 |
Sawyer NT, Escayg A. Stress and epilepsy: multiple models, multiple outcomes. Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. 27: 445-52. PMID 21076337 DOI: 10.1097/Wnp.0B013E3181Fe0573 |
0.47 |
|
| 2010 |
Escayg A, Goldin AL. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia. 51: 1650-8. PMID 20831750 DOI: 10.1111/J.1528-1167.2010.02640.X |
0.681 |
|
| 2010 |
Papale LA, Paul KN, Sawyer NT, Manns JR, Tufik S, Escayg A. Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory. The Journal of Biological Chemistry. 285: 16553-61. PMID 20353942 DOI: 10.1074/Jbc.M109.090084 |
0.461 |
|
| 2010 |
Martin MS, Dutt K, Papale LA, Dubé CM, Dutton SB, de Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL, Escayg A. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. The Journal of Biological Chemistry. 285: 9823-34. PMID 20100831 DOI: 10.1074/Jbc.M109.078568 |
0.829 |
|
| 2009 |
Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiology of Disease. 35: 91-102. PMID 19409490 DOI: 10.1016/J.Nbd.2009.04.007 |
0.675 |
|
| 2009 |
Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, Letts VA, Meisler MH, Frankel WN, Escayg A. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Human Molecular Genetics. 18: 1633-41. PMID 19254928 DOI: 10.1093/Hmg/Ddp081 |
0.744 |
|
| 2009 |
Papale LA, Paul KN, Martin MS, Tufik S, Escayg A. 049 Mice With Sodium Channel Mutations Show Subtype-Specific Alterations In Sleep Architecture Sleep Medicine. 10. DOI: 10.1016/S1389-9457(09)70051-6 |
0.787 |
|
| 2008 |
Dutton SB, Escayg A. Genetic influences on ketogenic diet efficacy. Epilepsia. 49: 67-9. PMID 19049592 DOI: 10.1111/J.1528-1167.2008.01839.X |
0.784 |
|
| 2008 |
Tang B, Sander T, Craven KB, Hempelmann A, Escayg A. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. Neurobiology of Disease. 29: 59-70. PMID 17931874 DOI: 10.1016/J.Nbd.2007.08.006 |
0.562 |
|
| 2007 |
Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Human Molecular Genetics. 16: 2892-9. PMID 17881658 DOI: 10.1093/Hmg/Ddm248 |
0.86 |
|
| 2007 |
Martin MS, Tang B, Ta N, Escayg A. Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Genomics. 90: 225-35. PMID 17544618 DOI: 10.1016/J.Ygeno.2007.04.006 |
0.815 |
|
| 2006 |
Hunter J, Maljevic S, Shankar A, Siegel A, Weissman B, Holt P, Olson L, Lerche H, Escayg A. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. Neurobiology of Disease. 24: 194-201. PMID 16916607 DOI: 10.1016/J.Nbd.2006.06.011 |
0.551 |
|
| 2006 |
Brevern MV, Ta N, Shankar A, Wiste A, Siegel A, Radtke A, Sander T, Escayg A. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache. 46: 1136-1141. PMID 16866717 DOI: 10.1111/J.1526-4610.2006.00504.X |
0.531 |
|
| 2006 |
Barela 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. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 2714-23. PMID 16525050 DOI: 10.1523/Jneurosci.2977-05.2006 |
0.596 |
|
| 2006 |
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric Neurology. 34: 116-20. PMID 16458823 DOI: 10.1016/J.Pediatrneurol.2005.07.009 |
0.756 |
|
| 2004 |
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. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 10022-34. PMID 15525788 DOI: 10.1523/Jneurosci.2034-04.2004 |
0.825 |
|
| 2003 |
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. Molecular Psychiatry. 8: 186-94. PMID 12610651 DOI: 10.1038/Sj.Mp.4001241 |
0.796 |
|
| 2003 |
Spampanato 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. 116: 37-48. PMID 12535936 DOI: 10.1016/S0306-4522(02)00698-X |
0.757 |
|
| 2002 |
Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Mutations of voltage-gated sodium channels in movement disorders and epilepsy. Novartis Foundation Symposium. 241: 72-81; discussion 82. PMID 11771652 DOI: 10.1002/0470846682.Ch6 |
0.832 |
|
| 2001 |
Meisler MH, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annual Review of Genetics. 35: 567-88. PMID 11700294 DOI: 10.1146/Annurev.Genet.35.102401.091142 |
0.767 |
|
| 2001 |
Spampanato 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. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 7481-90. PMID 11567038 DOI: 10.1523/Jneurosci.21-19-07481.2001 |
0.737 |
|
| 2001 |
Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 7: 136-45. PMID 11496924 DOI: 10.1177/107385840100700208 |
0.832 |
|
| 2001 |
Reid E, Escayg A, Dearlove AM, Lee DD, Meisler MH, Rubinsztein DC. The spastic paraplegia SPG10 locus: Narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate [7] Journal of Medical Genetics. 38: 65-67. PMID 11334010 DOI: 10.1136/Jmg.38.1.65 |
0.486 |
|
| 2001 |
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. American Journal of Human Genetics. 68: 866-73. PMID 11254445 DOI: 10.1086/319524 |
0.821 |
|
| 2000 |
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. American Journal of Human Genetics. 66: 1531-9. PMID 10762541 DOI: 10.1086/302909 |
0.735 |
|
| 2000 |
Jones JM, Huang JD, Mermall V, Hamilton BA, Mooseker MS, Escayg A, Copeland NG, Jenkins NA, Meisler MH. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics. 9: 821-8. PMID 10749990 DOI: 10.1093/Hmg/9.5.821 |
0.603 |
|
| 2000 |
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. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. 24: 343-5. PMID 10742094 DOI: 10.1038/74159 |
0.845 |
|
| 1999 |
Dib-Hajj SD, Tyrrell L, Escayg A, Wood PM, Meisler MH, Waxman SG. Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN Genomics. 59: 309-318. PMID 10444332 DOI: 10.1006/Geno.1999.5890 |
0.625 |
|
| 1999 |
Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Human Molecular Genetics. 8: 471-9. PMID 9949206 DOI: 10.1093/Hmg/8.3.471 |
0.776 |
|
| 1998 |
Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH. Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Genomics. 50: 14-22. PMID 9628818 DOI: 10.1006/Geno.1998.5311 |
0.617 |
|
| 1997 |
Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM. Ion channel mutations in mouse models of inherited neurological disease. Annals of Medicine. 29: 569-74. PMID 9562526 DOI: 10.3109/07853899709007484 |
0.825 |
|
| Show low-probability matches. |