Primary research publications
Chu, J., Fitzgerald, M.L., Sehgal, N., Manley, W., Fitzgerald, S., Naung, H., Goldberg, E.M., Anderson, S.A.: Enhanced maturation of human stem cell derived interneurons by mTOR activation. bioRxiv 777714; doi: https://doi.org/10.1101/777714
Mattis, J.H., Somarowthu, A., Goff, K.M., Yom, J., Sotuyo, N.P., McGarry, L.M., Feng, H., Kaneko, K., Goldberg, E.M.: Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome. bioRxiv 2021.05.01.442271; doi: https://doi.org/10.1101/2021.05.01.442271
Kaneko, K., Currin, C.B., Goff, K.M., Somarowthu, A., Vogels, T.P., Goldberg, E.M.: Developmentally-regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome bioRxiv 2021.07.28.454042; doi: https://doi.org/10.1101/2021.07.28.454042
Zaman, T., Helbig, K.L., Clatot, J., Thompson, C.H., Kang, S.K., Stouffs, K., Jansen, A.E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben-Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T.A., Ackermann, S., Spencer, C.E., Lippa, N., Srinivasan, S., Charzewska, A., Hoffman-Zacharska, D., Fitzpatrick, D., Harrison, V., Vasudevan, P., Joss, S., Pilz, D.T., Fawcett, K.A., Helbig, I., Matsumoto, N., Kearney, J.A., Fry, A.E., Goldberg, E.M. : SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Ann Neurol 88(2): 348-362, August 2020.
Somarowthu, A., Goff, K.M., Goldberg, E.M.: Two-photon calcium imaging of seizures in awake, head-fixed mice. Cell Calcium 96: 102380, February 2021.
Tran, C.H., Vaiana M., Nakuci J., Somarowthu A., Goff K.M., Goldstein N., Murthy P., Muldoon S., Goldberg E.M.: Interneuron Desynchronization Precedes Seizures in a Mouse Model of Dravet Syndrome. J Neurosci
Goff, K.M., Goldberg, E.M.: Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet Syndrome. eLife 8. pii: e46846, 2019. Open Access
Zaman, T., Tayoun, A.A., Goldberg, E.M.: A single‐center SCN8A‐related epilepsy cohort: clinical, genetic, and physiologic characterization. Annals of Clinical and Translational Neurology 6(8):1445-1455, 2019. Open Access
Vaiana, M., Goldberg, E.M., Muldoon, S.F.: Optimizing state change detection in functional temporal networks through dynamic community detection. Journal of Complex Networks 00: 1-23, 2018.
Favero, M., Sotuyo, N.P., Lopez, E., Kearney, J.A., Goldberg, E.M.: A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome. J Neurosci. 38(36):7912-7927, 2018. VIEW PDF
Zaman, T., Helbig, I., Božović, I.B., DeBrosse, S.D., Bergqvist, A.C., Wallis, K., Medne, L., Maver, A., Peterlin, B., Helbig, K.L., Zhang, X., Goldberg, E.M.: Mutations in SCN3A cause early infantile epileptic encephalopathy. Annals of Neurology 83(4):703-717, 2018. VIEW PDF
Natan, R.G., Briguglio, J.J., Mwilambwe-Tshilobo, L., Jones, S., Aizenberg, M., Goldberg, E.M., Geffen, M.N.: Complementary control of sensory adaptation by two types of cortical interneurons. eLife 4. pii: e09868, 2015. VIEW PDF
Tyson J.A., Goldberg E.M., Maroof A.M., Xu Q., Petros T.J., Anderson S.A.: Duration of culture and sonic hedgehog signaling differentially specify PV versus SST cortical interneuron fates from embryonic stem cells. Development 142:1267-1278, 2015. VIEW PDF
Zhou J., Goldberg E.M., Leu N.A., Zhou L., Coulter D.A., Wang P.J.: Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome. Hum Mol Genet 23:3823-3829, 2014.
Goldberg E.M., Jeong H.-Y., Kruglikov I., Tremblay R., Lazarenko R.M., Rudy B.: Rapid developmental maturation of neocortical FS cell intrinsic excitability. Cerebral Cortex 21:666-82, 2011.
Goldberg E.M., Clark B.D., Zagha E.W., Nahmani M., Erisir A., Rudy B.: K+ channels at the axon initial segment produce delayed firing and dampen near-threshold excitability of neocortical fast-spiking GABAergic interneurons. Neuron 58:387-400, 2008.
Goldberg E.M., Watanabe S., Chang S., Joho R., Huang Z.J., Leonard C.S., Rudy B.: Specific functions of synaptically-localized potassium channels in synaptic transmission at the neocortical GABAergic fast-spiking cell synapse. J Neurosci 25:5230-35, 2005.
*Yan L., *Herrington J., *Goldberg E., Dulski P.M., Bugianesi R.M., Slaughter R.S., Banerjee P., Brochu R.M., Priest B.T., Kaczorowski G.J., Rudy B., Garcia M.L.: ShK, a Pharmacological Tool for Studying Kv3.2 Channels. Mol Pharmacol 67:1513-21, 2005. * = authors contributed equally.
Nadal M.S., Ozaita A., Vega-Saenz de Miera E., Ma Y., Mo W., Goldberg E.M., Amarillo Y., Ikehara Y., Neubert T.A., Rudy B.: The CD26-related dipeptidyl aminopeptidase-like protein DPPX is a critical component of neuronal A-type K+ channels. Neuron 37:449-61, 2003.
Szeszko P.R., Goldberg E. Gunduz-Bruce H., Ashtari M., Robinson D., Malhotra A.K., Lencz T., Bates J., Crandall D.T., Kane J.M., Bilder R.M.: Smaller anterior hippocampal formation volume in antipsychotic-naive patients with first-episode schizophrenia. Am J Psychiatry 160:2190-7, 2003.
Clinical neurogenetics publications
Balciuniene, J., DeChene, E.T., Akgumus, G., Romasko, E.J., Cao, K., Dubbs, H.A., Mulchandani, S., Spinner, N.B., Conlin, L.K., Marsh, E.D., Goldberg, E., Helbig, I., Sarmady, M., Abou Tayoun, A. JAMA Netw Open. Apr 5;2(4):e192129, 2019.
Mignot, C., McMahon, A.C., Bar, C., Campeau, P.M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M.L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A.L., Brunga, L., Ceulemans, B., Coubes, C., Cristancho. A.G., Cunningham, F., Dehouck, M.B., Donner, E.J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E.M., Hagebeuk, E., Hamdan, F.F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J.L., Miller, K., Minassian, B.A., Morales, J., Moutard, M.L., Munnich, A., Ortiz-Gonzalez, X.R., Pinard, J.M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A.R., Roume, J., Rossignol, E., Simon, M.E.H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S.P., van der Smagt, J.J., van Hasselt, P.M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R.S., Lesca, G., Helbig, K.L., Nabbout, R., Verbeek, N.E., Depienne, C. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med 21(4):837-849, 2019.
Platzer, K., Hongjie, Y., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H.O., Helbig, K.L., Tang, S., Willing, M.C., Tinkle, B.T., Adams, D.J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D., Strom, T.M., Mefford, H.C., Myers, C.T., Muir, A.M., LaCroix A., Sadleir, L., Scheffer, I.E., Brilstra, E., van Haelst, M.M., van der Smagt, J.J., Bok Levinus, A., Møller, R.,S., Jensen, U.B., Millichap, J.J., Berg, A.T., Goldberg, E.M., De Bie, I., Fox, S., Major, P., Jones, J.R., Zackai, E.H., Abou, J.R., Rolfs, A., Leventer, R.J., Lawson, J.A., Roscioli, T., Jansen, F.E., Ranza, E., Korff, C.M., Lehesjoki, A.E., Courage, C., Linnankivi, T., Smith, D.R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W.-H., Tarnopolsky, M.A., Brady , L.I., Wolff, M., Dondit, L., Pedro, H.F., Parisotto, S.E., Jones, K.L., Patel, A.D., Anup D., Franz, D.N., Vanzo, R., Marco, E., Ranells, J.D., Di Donato, N., Dobyns, W.B., Laube, B., Traynelis, S.F., Lemke, J.R. GRIN2B encephalopathy – novel phenotypic, genetic and functional aspects. J Med Genet 54(7):460-470, 2017.
de Kovel, C.G.F., Syrbe, S., Brilstra, E.H., Verbeek, N., Kerr, B., Dubbs, H., Bayat, A., Desai, S., Naidu, S., Srivastava, S., Cagaylan, H., Yis, U., Saunders, C., Rook, M., Plugge, S., Muhle, H., Afawi, Z., Klein, K.M., Jayaraman, V., Rajagopalan, R., Goldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L.K., Krok, B.L., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J.R., van den Boogaardt, M.J., Møller, R.S., Koeleman, B.P.C.: Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurology 74(10):1228, 2016.
Shen, D., Hernandez, C.C., Shen, W., Hu, N., Poduri, A., Shiedley, B., Rotenberg, A., Datta, A.N., Leiz, S., Patzer, S., Boor, R., Ramsey, K., Goldberg, E., Helbig, I., Ortiz-Gonzalez, X.R., Lemke, J.R., Marsh, E.D., Macdonald, R.L. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain 140(1): 49-67, 2016.
Tian, G., Cristancho, A.G., Dubbs, H.G., Liu, G.T., Cowan, N.J., Goldberg, E.M.: A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Molecular Genetics & Genomic Medicine 4:599-603, 2016
Harding B, Vossough A, Goldberg E, Santi M. Pontine Tegmental Cap Dysplasia: Neuropathologic Confirmation of a Rare Clinical/Radiologic Syndrome. Neuropathol Appl Neurobiol 42:301-306, 2015. Bearden D., Strong A., Ehnot J., DiGiovine M., Dlugos D., Goldberg E.M.: Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol 76:457-461, 2014. [Link to .pdf]
Matalon D., Goldberg E., Medne L., Marsh E.D.: Confirming an expanded spectrum of SCN2A mutations: a case series. Epileptic Disord 16:13-18, 2014.
Reviews and book chapters
Goldberg, E.M., Coulter, D.A.: Seizing the opportunity: Stem cells take on epilepsy. Cell Stem Cell 15:527-528, 2014. Preview.
Abend, N.S., Wusthoff, C.J., Goldberg, E.M., Dlugos, D.J.: Electrographic Seizures and Status Epilepticus in Critically Ill Encephalopathic Neonates and Children. Lancet Neurol 12:1170-1179, 2013. Review.
Goldberg, E.M., Coulter, D.A.: Mechanisms of epileptogenesis: A convergence on brain circuits. Nat Rev Neurosci 14:337-49, 2013. Review. VIEW PDF
Coulter D.A., Yue C., Ang C.W., Weissinger F., Goldberg E., Hsu F.C., Carlson G.C., Takano H.: Hippocampal Microcircuit Dynamics Probed Using Optical Imaging Approaches. J Physiol 589:1893-1903, 2011. Review.
Clark B.D., Goldberg E.M., Rudy B.: Electrogenic tuning of the axon initial segment. Neuroscientist 15:651-68, 2009. Review.
Rudy B., Maffie J., Amarillo Y., Clark B., Goldberg E.M., Jeong H.J., and others: Voltage gated potassium channels: structure and function of Kv1 to Kv9 subfamilies. In Squire L. (Ed.). Encyclopedia of neuroscience, Oxford Academic Press, Oxford, U,K., 2009, 397-425.
Rudy B., Maffie J., Amarillo Y., Clark B.D., Goldberg E.M., Jeong H.Y., Kruglikov I., Kwon E., Nadal M., Zagha E.: Voltage-gated K+ channels. In Kew J., Davies C. (Ed.). Ion Channels: Structure and Function, Oxford University Press, New York, NY, 2009.