Our Publications

Shiu, F.H., Hill, E.J., Li, Y., Tang, S., Ettigi, N., King, A., Yao, B., Yang, J., Sloan, S.A., Escayg, A. ADGRB1 contributes to astrocyte-mediated phagocytosis of excitatory synapses. Submitted.

Shiu, F.H., Wong, J.C., Bhattacharya, D., Kuranaga, Y., Parag, R.R., Alsharif, H.A., Bhatnagar, S., Van Meir, E.G., Escayg, A. Generation and initial characterization of mice lacking full-length BAI3 (ADGRB3) expression. Basic Clin Pharmacol Toxicol 2023. PMID: 37337931.

Vogt, K.E., Vogt, J., Kintscher, M., Ponomarenko, A., Baumgart, J., Beed, P., Korotkova, T., Trimbuch, T., Panzer, A., Steinlein, O.K., Stephani, U., Escayg, A., Koko, M., Liu, Y., Lerche, H., Schmitz, D., Nitsch, R., Schuelke, M. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype. Cereb Cortex 2023: 33: 7454-7467. PMID: 36977636.

Mattison, K.A, Tossing, G., Mulroe, F., Simmons, C., Butler, K.M., Schreiber, A., Alsadah, A., Neilson, D.E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G.J., Menendez, B., Hoganson, G.E., Botto, L.D., Filloux, F.M., Aledo-Serrano, Á., Gil-Nagel, A., Tatton-Brown, K., Verbeek, N.E., van Hirtum-Das, M., Breckpot, J., Hammer, T.B., Møller, R.S., Whitney, A., Douglas, A.G.L., Kharbanda, M., Brunetti-Pierri, N., Morleo, M., Nigro, V., May, H.J., Tao, J.X., Argili, E., Sherr, E.H., Dobyns, W.B., Consortium, G.E.R., Baines, R.A., Warwicker, J., Parker, J.A., Banka, S., Campeau, P.M., Escayg, A. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain 2023: 146: 1357-1372. PMID: PMC10319782.

Badshah, N., Mattison, K.A., Ahmad, S., Chopra, P., Johnston, H.R., Ahmad, S., Khan, S.H., Sarwar, M.T., Cutler, D.J., Taylor, M., Vadlamani, G., Zwick, M.E., Escayg, A. Novel Missense CNTNAP2 variant identified in two consanguineous Pakistani familes with developmental delay, epilepsy, intellectual disability, and aggressive behavior. Frontiers in Neurology 2022: 13: 918022.

Shapiro L., Escayg, A., Wong, J.C. Cannabidiol increases seizure resistance and improves behavior in an Scn8a mouse model. Frontiers in Pharmacology 2022: 13: 815950. PMID: PMC8826257.

Shiu, F, Wong, J.C., Purcell, R.H., Lala, T., Owino, S., Zhu, D., Van Meir, E.G., Hall, R.A., Escayg, A. Mice lacking full length Adgrb1 (Bai1) exhibit social deficits, increased seizure susceptibility, and altered brain development. Experimental Neurology 2022: 351: 113994. PMID: 35114205.

Wong, J.C., Butler, K.M., Shapiro, L., Thelin, J.T., Mattison, K.A., Garber, K.B., Goldenberg, P.C., Kubendran, S., Schaefer, G.B., Escayg, A. Pathogenic in-frame variants in SCN8A: expanding the genetic landscape of SCN8A-associated disease. Frontiers in Pharmacology 2021: 12: 748415. PMID: PMC8635767.

Wong, J.C., Grieco, S.F., Dutt, K., Chen, L., Thelin, J.T., Inglis, G.A.S., Parvin, S., Garraway, S.M., Xu, X., Goldin, A.L., Escayg, A. Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model. Neuropsychopharmacology 2021: PMID: 33658654.

Shapiro, L., Gado, F., Manera, C.,  Escayg, A. Allosteric modulation of the cannabinoid 2 receptor confers seizure resistance in mice. Neuropharmacology 2021: 188: 108448. PMID: 33450277.

Wong, J.C., Shapiro, L., Thelin, J.T., Heaton, E.C., Zaman, R.U., D’Souza, M.J., Murnane, K.S., Escayg, A. Neurobiology of Disease, 2021: 147: 105147. PMID: PMC7726060.

Inglis, G.A.S., Zhou, Y., Patterson, D.G., Scharer, C.D., Boss, J.M., Wen, Z., Escayg, A. Transcriptomic and epigenomic dynamics associated with development of human iPSC-derived GABAergic interneurons. Human Molecular Genetics, 2020: 29(15): 2579-2595. PMID: PMC7471504.

Inglis, G.A.S., Wong, J.C., Butler, K.M., Thelin J.T., Mistretta, O.C., Wu, X., Lin, X., English, A.W., Escayg, A. Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav1.6 sodium channels. Genes, brain and behavior 2020: 19(4): e12612. PMID: 31605437.

Shapiro, L., Wong, J.C., Escayg, A. Reduced cannabinoid 2 receptor activity increases susceptibility to induced seizures in mice. Epilepsia 2019: 60(12): 2359-2369. PMID: PMC6911915.

Wong, J.C., Thelin, J.T., Escayg, A. Donepezil increases resistant to induced seizures in a mouse model of Dravet syndrome. Annals of Clinical Translational Neurology 2019: 6(8): 1566-1571. PMID: PMC6689688.

Salgueiro-Pereira, A.R., Duprat, F., Pousinha, P.A., Loucif, A., Douchamps, V., Regondi, C., Ayrault, M., Eugie, M., Stunault, M.I., Escayg, A., Goutagny, R., Gnatkovsky, V., Frassoni, C., Marie, H., Bethus, I., Mantegazza, M. A two-hit story: seizure and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. Neurobiology of Disease 2019: 125: 31-44. PMID: 30659983.

Butler, K.M., Holt, P.J., Milla, S.S., da Silva, C., Alexander, J.J., Escayg, A. Epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous CACNA2D2 variants. Case Reports in Genetics 2018: 6308283. PMID: PMC6205307.

Mattison, K.A., Butler, K.M., Inglis, G.A.S., Dayan, O., Boussidan, H., Bhambhani, V., Philbrook, B., da Silva, C., Alexander, J.J., Kanner, B.I., Escayg, A. SLC6A1 Variants Identified in Epilepsy Patients Reduce GABA Transport. Epilepsia 2018: 59: e135-e141. PMID: 30132828.

Butler, K.M., Moody, O., Schuler, E., Coryell, J., Alexander, J.J., Jenkins, A., Escayg, A. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. Brain 2018. Epub ahead of print. PMID: PMC6061692. Editor’s choice August 2018

Wong, J.C., Makinson, C.D., Lamar, T., Cheng, Q., Wingard, J.C., Terwilliger, E.F., Escayg, A. Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy. Scientific Reports 2018: 8: 126. PMID: PMC5760706.

Butler, K.M., da Silva, C., Alexander, J.J., Hegde, M., Escayg, A. Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel. Pediatric Neurology 2017: 77: 61-66. PMID: 29056246.

Giddens, M.M., Wong, J.C., Schroeder, J.P., Farrow, E.G., Smith, B.M., Owino, S., Soden, S.E., Meyer, R.C., Saunders, C., LePichon, J.B., Weinshenker, D., Escayg, A., Hall, R.A. GPR37L1 Modulates Seizure Susceptibility:  Evidence from Mouse Studies and Analyses of a Human GPR37L1 Variant. Neurobiology of Disease 2017: 106: 181-190. PMID: PMC5569905.

Rha, J., Jones, S.K., Fidler, J., Morris, K.J., Banerjee, A., Wong, J.C., Inglis, G.A.S., Shapiro, L., Deng, Q., Hanif, A.M., Pardue, M.T., Schaffer, T.A., Seyfried, N.T., Moberg, K.H., Bassell, G.J., Escayg, A., García, P.S., Corbett, A.H. 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, 2017: 26(19): 3663-3681. PMID: PMC5886104.

Makinson, C.D., Tanaka, B.S., Sorokin, J. Wong, J.C., Christian, C.A., Goldin, A.L., Escayg, A.*, Huguenard, J.R.* Regulation of thalamic and cortical network synchrony by Scn8a. Neuron 2017: 93: 1165-1179. PMCID: PMC5393918. *Co-senior authors.

Butler, K.M., da Silva, C., Shafir, Y., Weisfeld-Adams, J.D., Alexander, J.J., Hegde, M., Escayg, A. De novo and inherited SCN8A epilepsy mutations detected from gene panel analysis. Epilepsy Research 2017: 129: 17-25. PMCID: PMC5321682.

Lamar, T., Vanoye, C.G., Calhoun, J., Wong, J.C., Dutton, S.B., Jorge, B.S., Velinov, M., Escayg, A*., Kearney, J.A*. SCN3A deficiency associated with increased seizure susceptibility. Neurobiology of Disease 2017: 102: 38-48. PMID: 28235671. *Corresponding authors.

Dutton, S.B.B., Dutt, K., Papale L.A., Helmers  S., Goldin  A.L., Escayg, A. Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. Experimental Neurology 2017: 293: 159-171. PMID: 28373025.

Wong, J.C., Dutton, S,B.B., Collins, S.D., Schachter, S., Escayg, A. Huperzine A provides robust and sustained protection against induced seizures in Scn1a mutant mice. Frontiers in Pharmacology 2016: 7: 357. PMCID: PMC5065986. (Press release on this study, November 9, 2016, http://news.emory.edu/stories/2016/11/hupA_escayg_dravet/index.html).

Sawyer, N.T., Helvig, A.W., Makinson, C.D., Decker, M.J., Neigh, G.N., Escayg, A. Scn1a dysfunction alters behavior but not the effect of stress on seizure response. Genes Brain Behavior 2016: 15: 335-347.

Makinson, C.D., Dutt K., Lin, F., Papale, L.A., Shankar, A., Barela, A., Liu, R., Goldin, A.L., Escayg, A. An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Experimental Neurology 2016: 275: 46-58.

Hedrich, U.B.S., Liautard, C., Kirschenbaum, D., Pofahl, M., Liu, Y., Escayg, A., Dihne, M., Beck, H., Mantegazza, M., Lerche, H. Hypoexcitable axon initial segments in interneurons increase neuronal network activity in an epileptic Nav1.1 knock-in mouse model. J. Neuroscience 2014:  34(45): 14874-14889.

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 2014: 9: 1204-1212.

Makinson, C.D., Tanaka, B.S., Lamar, T., Goldin, A.L., Escayg, A. Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure protection. Neurobiology of Disease 2014: 68: 16-25.

Sawyer, N.T., Papale, L.A., Eliason, J., Neigh, G.N., Escayg, A. Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress. Psychoneuroendocrinology 2014: 39: 225-236. 

Purcell, R.H., Papale, L.A., Makinson, C.D., Sawyer, N.T., Schroeder, J.P., Escayg, A., Weinshenker, D. Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice. Psychopharmacology 2013: 228: 263-270.

Distler, M.G., Gorfinkle, N., Papale, L.A., Wuenschell, G.E., Termini, J., Escayg, A., Winawer, M.R., Palmer, A.A. Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility. Epilepsia 2013: 54: 649-657.

Papale, L.A., Makinson, C.D., Ehlen, J. C., Tufik, S., Decker, M.J., Paul, K.N., Escayg, A. Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). Epilepsia 2013: 54: 625-634.

Dutton, S.B., Makinson, C.D., Papale, L.A., Shankar, A., Balakrishnan, B., Nakazawa, K., Escayg, A. Preferential inactivation of Scn1a in pavalbumin interneurons increases seizure susceptibility. Neurobiology of Disease 2013: 49: 211-220.

Chan, C.B., Chen, Y., Liu, X., Papale, L., Escayg, A., Mei, L., Ye, K. Essential role of PIKE GTPases in neuronal protection against excitotoxic insults. Adv. Biol Regul. 2012: 52(1): 66-76.

Dutton, S.B.B, Sawyer, N.T., Kalume, F., Borges, K., Jumbo-Lucioni, P., Catterall, W.A., Escayg, A. Protective effect of the ketogenic diet in Scn1a mutant mice. Epilepsia 2011: 52: 2050-2056.

Hawkins, N.A., Martin, M.S., Frankel, W.N., Kearney, J.A., Escayg, A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiology of Disease 2011: 41: 655-660.

Papale, L.A., Paul, K.N., Sawyer, N.T., Manns, J.R., Tufik, S., Escayg, A. Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory. J. Biol. Chem. 2010: 285: 16553-16561.

Martin, M.S., Dutt, K., Papale, L., Dube, C., Dutton, S.B., De Hann, G., Shankar, A., Tufik, S., Baram, T., Meisler, M.H., Goldin, A.L., Escayg, A. Altered function of the SCN1A voltage-gated sodium channel leads to GABAergic interneuron abnormalities. J. Biol. Chem. 2010: 285: 9823-9834.

Tang, B., Dutt, K., Papale, L., Rusconi, R., Shankar, A., Hunter, J., Tufik, S., Mantegazza, M., Goldin, A.L., 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 2009: 35: 91-102.

Papale, L.A., Beyer, B., Jones, J.M., Sharkey, L.M., Tufik, S., Epstein, M., Letts, V.A., Meisler, M.H., Frankel, W.N., 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 2009: 18: 1633-1641.

Tang, B., Sander, T., Craven, K.B., Hempelmann, A., Escayg, A. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic epilepsy. Neurobiology of Disease 2008: 29: 59-70.

Martin, M.S., Tang, B., Papale, L.A., Yu, F.H., Catterall, W.A., Escayg, A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Human Molecular Genetics 2007: 16: 2892-2999.

Martin, M.S., 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 2007: 90: 225-235.

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 Kv7.2 channel in neonatal epilepsy.  Neurobiology of Disease 2006: 24: 194-201.

von Brevern, M., Ta, N., Shankar, A., Wiste, A., Siegel, A., Radtke, A., Sander, T., Escayg, A. Migrainous vertigo: mutation analysis of CACNA1A, CACNB4, SCN1A and ATP1A2.  Headache 2006: 46: 1136-1141.

Barela, A.J., Waddy, S.P., Lickfett, J.G., Hunter, J., Anido, A., Helmers, S.L., Goldin, A.L., Escayg, A. An Epilepsy Mutation in the Sodium Channel SCN1A that Decreases Channel Excitability. J. Neurosci. 2006: 26: 2714-2723.

Kearney, J.A., Wiste, A.K., Stephani, U., Trudeau, M., Siegel, A., RamachandranNair, R., Elterman, R., Muhle, H., Reinsdorf, J., Shields, W.D., Meisler, M.H., Escayg, A. Recurrent de novo mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy. Pediatric Neurology 2006: 34: 116-120.

Spampanato, J., Kearney, J.A., de Haan, G., McEwen, D.P., Escayg, A., Aradi, I., MacDonald, B.T., Levin, S.I., Soltesz, I., Benna, P., Montalenti, E., Isom, L.L., Goldin, A.L., Meisler, M.H. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.  J. Neurosci. 2004: 24:10022-10034.

Weiss, L.A., Escayg, A., Kearney J.A., Trudeau, M., MacDonald, B.T., Mori, M., Reichert, J., The Autism Genetic Resource Exchange Consortium, Buxbaum, J.D., Meisler, M.H. Sodium channels SCN1A, SCN2A and SCN3A in familial autism.  Mol. Psychiatry. 2003: 8:186-194.

Spampanato, J., Escayg, A., Meisler, M.H., Goldin, A.L. The generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters the voltage-dependent gating of the rNav1.1 sodium channel. Neuroscience. 2003: 116:37-48.

Escayg, A., Heils, A., MacDonald, B.T., Haug, K., Sander, T., Meisler, M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy.  Am. J. Hum. Genet. 2001: 68: 866-873.

Spampanato, J., Escayg, A., Meisler, M.H., Goldin, A.L. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.  J. Neurosci. 2001: 21: 7481-7490.

Reid, E*., Escayg, A.*, Dearlove, A.M., Lee, D.D., Meisler, M.H., Rubinsztein, D.C. The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate.  J. Med. Genet. 2001: 38: 65-67. * equal contribution.

Escayg, A., MacDonald, B.T., Meisler, M.H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., Buresi C., and Malafosse, A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.  Nature Genetics 2000: 24: 343-345.

Escayg, A., De Waard, M., Lee, D.D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., Meisler, M.H. Coding and noncoding variation of the human calcium channel b4 subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.  Am. J. Hum. Genet. 2000: 66: 1531-1539.

Hickford, J.G., Ridgway, H.J., Escayg, A.P. Evolution of the ovine MHC DQA region.  Animal Genetics 2000: 31: 200-205.

Jones, J.M., Huang, J-D., Mermall, V., Hamilton, B., Mooseker, M.S., Escayg, A., Copeland, N.G., Jenkins, N.A., Meisler, M.H. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molec. Genet. 2000: 9: 821-828.

Sprunger, L.K., Escayg, A., Tallaksen-Green, S., Albin, R.L., Meisler, M.H.  Dystonia associated with mutation of the neuronal sodium channel Scn8a: and identification of the modifier locus Scnm1 on mouse chromosome 3.  Human Molec. Genet. 1999: 8: 471-479.

Dib-Hajj, S. D., Tyrrell, L., Escayg, A., Wood, P. M., Meisler, M. H., Waxman,  S. G. Coding sequence, genomic organization and chromosomal localization of the mouse Scn11a gene encoding the sodium channel NaN, Genomics 1999: 59: 309-318.

Escayg, A., Jones, J.M., Kearney, J.A., Hitchcock, P.F., Meisler, M.H. Calcium cannel β4 (CACNB4): Human ortholog of the mouse epilepsy gene lethargic.  Genomics 1998: 50: 14-22.

Escayg, A.P., Bullock, D.W., Hickford, J.G. Association between alleles of the ovine major histocompatibility complex (MhcOvar) and resistance to footrot.  Research in Veterinary Science 1997: 63: 283-287.

Escayg, A.P., Montgomery, G.W., Hickford, J.G., Bullock, D.W. Polymorphism at the ovine MHC class II loci.  Animal Genetics 1996: 27: 305-312.

Chang-Yen, I., Escayg, A.P. Development of a rapid inexpensive test kit for paraquat estimation in urine and tap water.  Proceedings of the Caribbean Academy of Sciences 1994: 5: 61-66.

Escayg, A.P., Montgomery, G.W., Hickford, J.G., Bullock, D.W. A BglII restriction fragment length polymorphism at the ovine MHC class II DRA locus. Animal Genetics 1993: 24: 217.