Ethan Goldberg, MD, PhD, is a pediatric neurologist in the Division of Neurology at Children's Hospital of Philadelphia (CHOP) and Director of the Epilepsy NeuroGenetics Initiative (ENGIN). He sees patients in the Neurogenetics Clinic at CHOP.
Dr. Goldberg specializes in the diagnosis and care of children with neurodevelopmental disorders including epilepsy, developmental delay/intellectual disability, and autism spectrum disorder. He has a particular interest in the genetic basis of these disorders, and has specific expertise in evaluating and caring for children with Dravet syndrome and other epilepsies due to ion channelopathy such as KCNC1, SCN2A, SCN3A, and SCN8A-related epilepsies.
“I am interested in how alterations in the building blocks of brain function lead to large-scale brain dysfunction such as is seen in these disorders, and in the development of new treatments and potentially cures for such conditions,” he says.
Along with his work at CHOP, Dr. Goldberg is an Assistant Professor in the Departments of Neurology and Neuroscience at the Perelman School of Medicine at the University of Pennsylvania.
Dr. Goldberg’s research focuses on the mechanisms of these neurodevelopmental disorders. He notes that advances in neurogenetics — the study of the role of genetics in the development and function of the nervous system — have drastically improved diagnoses. Advances in brain science hold promise for innovative new treatments, he says.
“Modern 21st-century neuroscience techniques such as stem cell technology, large-scale electrical recordings, optogenetics, novel imaging techniques, and computational neuroscience approaches allow us to dream of new ways to use genetic information to develop specific therapies,” he says. Learn more about Dr. Goldberg's research in the Goldberg NeuroLab.
Education and Training
MD - New York University School of Medicine, New York, NY
PhD - New York University School of Medicine, New York, NY
Pediatrics - The Children's Hospital of Philadelphia, Philadelphia, PA
Pediatrics - The Children's Hospital of Philadelphia, Philadelphia, PA
Neurology - The Children's Hospital of Philadelphia, Philadelphia, PA
Neurology - The Hospital of the University of Pennsylvania, Philadelphia, PA
Titles and Academic Titles
Director, Epilepsy Neurogenetics Initiative
Assistant Professor of Neurology, Division of Neurology, Department of Pediatrics, Children’s Hospital of Philadelphia
Assistant Professor of Neurology, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania
Assistant Professor of Neuroscience, Department of Neuroscience, Perelman School of Medicine at the University of Pennsylvania
Somarowthu, A., Goff, K.M., Goldberg, E.M. 2021. Two-photon calcium imaging of seizures in awake, head-fixed mice. Cell Calcium 96: 102380.
Tran, C.H., Vaiana, M., Nakuci, J., Somarowthu, A., Goff, K.M., Goldstein, N., Murthy, P., Muldoon, S.F., Goldberg, E.M. 2020. Interneuron desynchronization precedes seizures in a mouse model of Dravet syndrome. Journal of Neuroscience 40(13): 2764-2775.
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. 2020. SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Ann Neurol 88(2): 348-362.
Li, J., Ryan, S., Deboer, E., Cook, K., Fitzgerald, S., Lachman, H., Wallace, D., Goldberg, E.M., Anderson, S.A. : Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia. 2019. Transl Psych 9(1): 302.
Kang, S.K., Vanoye, C.G., Misra, S.N., Echevarria, D.M., Calhoun, J.D., O'Connor, J.B., Fabre, K., McKnight, D., Demmer, L., Goldenberg, P., Grote, L.E., Strauss, K., Torkmani, A., can de Smagt, J., Carson, R., Diaz, J., Jacker, J. Litwin, J., Friedman, N., Schreiber, A., Poduri, A., Marsh, E., Goldberg, E.M., Millichap, J.J., George, A.L., Kearney, J.A. 2019. Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol 86(6): 899-912.
Goff KM, Goldberg EM. Elife. Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet Syndrome. 2019 Jul 8;8. pii: e46846. doi: 10.7554/eLife.46846. [Epub ahead of print]
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.
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. Epub 2018 Mar 30.
Charsar BA, Goldberg EM. Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. Pediatr Neurol. 2017 Nov;76:91-92. doi: 10.1016/j.pediatrneurol.2017.08.003. Epub 2017 Aug 15.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.
Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.
de Kovel CGF, Syrbe S, Brilstra EH, 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 KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. AMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.
Tian G, Cristancho AG, Dubbs HA, Liu GT, Cowan NJ, Goldberg EM. A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. Mol Genet Genomic Med. 2016 Sep 28;4(6):599-603. eCollection 2016 Nov.
Sharma S, Kalish JM, Goldberg EM, Reynoso FJ, Pradhan M. An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy. Case Rep Nephrol. 2016;2016:3181676. doi: 10.1155/2016/3181676. Epub 2016 Aug 29.
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):1267-78. doi: 10.1242/dev.111526.
Goldberg EM, Coulter DA. Seizing the opportunity: stem cells take on epilepsy. Cell Stem Cell. 2014 Nov 6;15(5):527-8. doi: 10.1016/j.stem.2014.10.017. Epub 2014 Nov 6.
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 (Epub ahead of print), 2014.
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 (Epub ahead of print), 2014.
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.
Goldberg E.M., Titulaer M., De Blank, P.M., Sievert A., Ryan N.: Anti-N-methyl-D-aspartate receptor mediated encephalitis in infants and toddlers: Case report and review of the literature. Pediatr Neurol 50:181-184, 2014.
Turkeltaub P., Goldberg E.M., Postman-Caucheteux W., Palovcak M., Quinn C., Cantor C., Coslett H.B.: Pure alexia due to ischemic stroke of the visual word form area. Neurocase 20:230-5, 2014.
Goldberg, E.M., Coulter, D.A.: Mechanisms of epileptogenesis: A convergence on brain circuits. Nat Rev Neurosci 14:337-49, 2013.
Lang S.S., Goldberg E., Zarnow D., Johnson M.P., Storm P.B., Heuer G.G.: Case Report: Prenatal diagnosis of hemimegalencephaly. World Neurosurgery (Epub ahead of print), 2013.
Goldberg E.M.: Fever and bulging fontanelle in a 7-month-old due to transient intracranial hypertension of infancy. Pediatr Emerg Care 29:513-514, 2013.
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.
2013, Samuel Zeritsky Award for Excellence in Research, The Hospital of the University of Pennsylvania
2014, Grass Foundation - AES Young Investigator Travel Award
2014, Burroughs Wellcome Fund Career Award for Medical Scientists
2017, American Society of Clinical Investigation Young Physician-Scientist Award
2019, Grass Foundation - American Neurological Association (ANA) Award in Neuroscience
2021, American Epilepsy Society (AES) Fritz E. Dreifuss Award
Patient Experience Ratings
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