Primary research publications
Hill SF, Liebergall SR, Wengert ER, Goldberg EM, Theyel BB. Interneurons exhibit attenuated ectopic action potential firing in a severe neurodevelopmental disorder. J Neurophysiol. 2025 Jun 1;133(6):1692-1698. doi: 10.1152/jn.00133.2025. Epub 2025 May 7. PubMed PMID: 40331861; PubMed Central PMCID: PMC12151314.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Rare dysfunctional SCN2A variants are associated with malformation of cortical development. Epilepsia. 2025 Mar;66(3):914-928. doi: 10.1111/epi.18234. Epub 2024 Dec 21. PubMed PMID: 39707911; PubMed Central PMCID: PMC11908663.
Wengert ER, Cheng MA, Liebergall SR, Markwalter KH, Hong Y, Arias L, Marsh ED, Zhang X, Somarowthu A, Goldberg EM. Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy. bioRxiv. 2024 Sep 27;. doi: 10.1101/2024.09.27.615463. PubMed PMID: 39386579; PubMed Central PMCID: PMC11463657.
Liebergall SR, Goldberg EM. Ndnf Interneuron Excitability Is Spared in a Mouse Model of Dravet Syndrome. J Neurosci. 2024 Apr 24;44(17). doi: 10.1523/JNEUROSCI.1977-23.2024. PubMed PMID: 38443186; PubMed Central PMCID: PMC11044195.
Qu G, Merchant JP, Clatot J, DeFlitch LM, Frederick DJ, Tang S, Salvatore M, Zhang X, Li J, Anderson SA, Goldberg EM. Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy. Brain. 2024 Apr 4;147(4):1247-1263. doi: 10.1093/brain/awad376. PubMed PMID: 37935051; PubMed Central PMCID: PMC10994535.
Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert ER, Koutcher C, Hoddeson E, Lopez E, Lee D, Arias L, Liang Q, Zhang X, Somarowthu A, Covarrubias M, Gunthorpe MJ, Large CH, Akizu N, Goldberg EM. Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy. Cell Rep Med. 2024 Feb 20;5(2):101389. doi: 10.1016/j.xcrm.2023.101389. Epub 2024 Jan 23. PubMed PMID: 38266642; PubMed Central PMCID: PMC10897515.
Clatot J, Currin CB, Liang Q, Pipatpolkai T, Massey SL, Helbig I, Delemotte L, Vogels TP, Covarrubias M, Goldberg EM. A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction. Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2307776121. doi: 10.1073/pnas.2307776121. Epub 2024 Jan 9. PubMed PMID: 38194456; PubMed Central PMCID: PMC10801864.
Waxman EA, Dungan LV, DeFlitch LM, Merchant JP, Gagne AL, Goldberg EM, French DL. Reproducible Differentiation of Human Pluripotent Stem Cells into Two-Dimensional Cortical Neuron Cultures with Checkpoints for Success. Curr Protoc. 2023 Dec;3(12):e948. doi: 10.1002/cpz1.948. PubMed PMID: 38148714; PubMed Central PMCID: PMC10753927.
Goff KM, Liebergall SR, Jiang E, Somarowthu A, Goldberg EM. VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome. Cell Rep. 2023 Jun 27;42(6):112628. doi: 10.1016/j.celrep.2023.112628. Epub 2023 Jun 12. PubMed PMID: 37310860; PubMed Central PMCID: PMC10592464.
Clatot J, Ginn N, Costain G, Goldberg EM. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol. 2023 Jan;10(1):111-117. doi: 10.1002/acn3.51707. Epub 2022 Nov 23. PubMed PMID: 36419348; PubMed Central PMCID: PMC9852383.
Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. Epilepsia. 2023 May;64(5):1318-1330. doi: 10.1111/epi.17444. Epub 2022 Nov 14. PubMed PMID: 36287100; PubMed Central PMCID: PMC10130239.
Chu J, Fitzgerald ML, Sehgal N, Manley W, Fitzgerald S, Naung H, Goldberg EM, Anderson SA. Enhanced maturation of human stem cell-derived interneurons by mTOR activation. bioRxiv. 2019 Aug 27;. doi: 10.1101/777714.
Mattis J, Somarowthu A, Goff KM, Jiang E, Yom J, Sotuyo N, McGarry LM, Feng H, Kaneko K, Goldberg EM. Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome. Elife. 2022 Feb 25;11:e69293. doi: 10.7554/eLife.69293. PubMed PMID: 35212623; PubMed Central PMCID: PMC8920506.
Kaneko K, Currin CB, Goff KM, Wengert ER, Somarowthu A, Vogels TP, Goldberg EM. Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome. Cell Rep. 2022 Mar 29;38(13):110580. doi: 10.1016/j.celrep.2022.110580. PubMed PMID: 35354025; PubMed Central PMCID: PMC9003081.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. SCN3A-related neurodevelopmental disorder: a spectrum of epilepsy and brain malformation. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25800. PubMed PMID: 32496522.
Somarowthu A, Goff KM, Goldberg EM. Two-photon calcium imaging of seizures in awake, head-fixed mice. Cell Calcium. 2021 Feb;96:102380. doi: 10.1016/j.ceca.2021.102380. PubMed PMID: 33497804.
Tran CH, Vaiana M, Nakuci J, Somarowthu A, Goff KM, Goldstein N, Murthy P, Muldoon S, Goldberg EM. Interneuron desynchronization precedes seizures in a mouse model of Dravet syndrome. J Neurosci. 2020 Mar 25;40(13):2764-2775. doi: 10.1523/JNEUROSCI.2370-19.2020. PubMed PMID: 32051293.
Goff KM, Goldberg EM. Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome. Elife. 2019;8:e46846. doi: 10.7554/eLife.46846. PubMed PMID: 31194943.
Zaman T, Tayoun AA, Goldberg EM. A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization. Ann Clin Transl Neurol. 2019 Aug;6(8):1445-1455. doi: 10.1002/acn3.50830. PubMed PMID: 31459333.
Vaiana M, Goldberg EM, Muldoon SF. Optimizing state change detection in functional temporal networks through dynamic community detection. J Complex Netw. 2018;6(5):735-757. doi: 10.1093/comnet/cny015.
Favero M, Sotuyo NP, Lopez E, Kearney JA, Goldberg EM. A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome. J Neurosci. 2018 Sep 5;38(36):7912-7927. doi: 10.1523/JNEUROSCI.1032-18.2018. PubMed PMID: 30082408.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. PubMed PMID: 29473272.
Natan RG, Briguglio JJ, Mwilambwe-Tshilobo L, Jones S, Aizenberg M, Goldberg EM, Geffen MN. Complementary control of sensory adaptation by two types of cortical interneurons. Elife. 2015;4:e09868. doi: 10.7554/eLife.09868. PubMed PMID: 26551544.
Tyson JA, Goldberg EM, Maroof AM, Xu Q, Petros TJ, Anderson SA. Duration of culture and sonic hedgehog signaling differentially specify PV versus SST cortical interneuron fates from embryonic stem cells. Development. 2015 Apr 1;142(7):1267-1278. doi: 10.1242/dev.117275. PubMed PMID: 25758464.
Zhou J, Goldberg EM, Leu NA, Zhou L, Coulter DA, Wang PJ. Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome. Hum Mol Genet. 2014 Aug 1;23(15):3823-3829. doi: 10.1093/hmg/ddu094. PubMed PMID: 24568807.
Goldberg EM, Jeong HY, Kruglikov I, Tremblay R, Lazarenko RM, Rudy B. Rapid developmental maturation of neocortical FS cell intrinsic excitability. Cereb Cortex. 2011 Mar;21(3):666-682. doi: 10.1093/cercor/bhq138. PubMed PMID: 20732900.
Goldberg EM, Clark BD, Zagha EW, 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. 2008 Apr 24;58(3):387-400. doi: 10.1016/j.neuron.2008.03.003. PubMed PMID: 18466749.
Goldberg EM, Watanabe S, Chang S, Joho R, Huang ZJ, Leonard CS, Rudy B. Specific functions of synaptically localized potassium channels in synaptic transmission at the neocortical GABAergic fast-spiking cell synapse. J Neurosci. 2005 May 25;25(21):5230-5235. doi: 10.1523/JNEUROSCI.0722-05.2005. PubMed PMID: 15917464.
Yan L*, Herrington J*, Goldberg E, Dulski PM, Bugianesi RM, Slaughter RS, Banerjee P, Brochu RM, Priest BT, Kaczorowski GJ, Rudy B, Garcia ML. ShK, a pharmacological tool for studying Kv3.2 channels. Mol Pharmacol. 2005 May;67(5):1513-1521. doi: 10.1124/mol.104.009373. PubMed PMID: 15713880.
Nadal MS, Ozaita A, Vega-Saenz de Miera E, Ma Y, Mo W, Goldberg EM, Amarillo Y, Ikehara Y, Neubert TA, Rudy B. The CD26-related dipeptidyl aminopeptidase-like protein DPPX is a critical component of neuronal A-type K+ channels. Neuron. 2003 Jan 23;37(3):449-461. doi: 10.1016/s0896-6273(03)00028-5. PubMed PMID: 12575945.
Szeszko PR, Goldberg E, Gunduz-Bruce H, Ashtari M, Robinson D, Malhotra AK, Lencz T, Bates J, Crandall DT, Kane JM, Bilder RM. Smaller anterior hippocampal formation volume in antipsychotic-naive patients with first-episode schizophrenia. Am J Psychiatry. 2003 Dec;160(12):2190-2197. doi: 10.1176/appi.ajp.160.12.2190. PubMed PMID: 14638587.
Clinical neurogenetics publications
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. PubMed PMID: 35314505; PubMed Central PMCID: PMC9162046.
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
Clatot J, Goldberg EM. No Pain, No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification. Epilepsy Curr. 2024 Mar-Apr;24(2):126-128. doi: 10.1177/15357597231225565. eCollection 2024 Mar-Apr. PubMed PMID: 39280051; PubMed Central PMCID: PMC11394415.
Knowles JK, Helbig I, Metcalf CS, Lubbers LS, Isom LL, Demarest S, Goldberg EM, George AL Jr, Lerche H, Weckhuysen S, Whittemore V, Berkovic SF, Lowenstein DH. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia. 2022 Oct;63(10):2461-2475. doi: 10.1111/epi.17332. Epub 2022 Jul 17. Review. PubMed PMID: 35716052; PubMed Central PMCID: PMC9561034.
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.