Pediatric Neurology; Neurology; Epilepsy; Neurogenetics; Epiepsy Neurogenetics; Developmental Delay; Autism Spectrum Disorder.
Epilepsy; Neurobiology of Disease; Physiology; Ion channels; Two-photon imaging.
Selected Publications
Clatot, J., Ginn, N., Costain, G., Goldberg, E.M.: A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Trans Neurol Jan 2023.
Kravchenko, J.A., Goldberg, E.M., Mattis, J.: Optogenetic and chemogenetic manipulation of seizure threshold in mice. STAR Protoc 4(1): 102019, Jan 2023.
Kayumi, S., Pérez-Jurado, L.A., Palomares, M., Rangu, S., Sheppard, S.E., Chung, W.K., Kruer, M.C., Kharbanda, M., Amor, D.J., McGillivray, G., Cohen, J.S., García-Miñaúr, S., van Eyk, C.L., Harper, K., Jolly, L.A., Webber, D.L., Barnett, C.P., Santos-Simarro, F., Pacio-Míguez, M., del Pozo, A., Bakhtiari, S., Deardorff, M., Dubbs, H.A., Izumi, K., Grand, K., Gray, C., Mark, P.R., Bhoj, E.J., Li, D., Ortiz-Gonzalez, X.R., Keena, B., Zackai, E.H., Goldberg, E.M., Perez de Nanclares, G., Pereda, A., Llano-Rivas, I., Arroyo, I., Fernández-Cuesta, M.A., Thauvin-Robinet, C., Faivre, L., Garde, A., Mazel, B., Bruel, A.-L., Tress, M.L., Brilstra, E., Fine, A.S., Crompton, K.E., Stegmann, A.P.A., Sinnema, M., Stevens, S.C.J., Nicolai, J., Lesca, G., Lion-François, L., Haye, D., Chatron, N., Piton, A., Nizon, M., Cogne, B., Srivastava, S., Bassetti, J., Muss, C., Gripp, K.W., Procopio, R.A., Millan, F., Morrow, M.M., Assaf, M., Moreno-De-Luca, A., Joss, S., Hamilton, M.J., Bertoli, M., Foulds, N., McKee, S., MacLennan, A.H., Gecz, J., Corbett, M.: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine 24(11): 2351-2366, November 2022.
Clatot, J., Parthasarathy., S, Cohen., S, McKee., J.L., Massey, S., Somarowthu, A., Goldberg, E.M. Helbig, I.: SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. Epilepsia Page: 1-3, October 2022 Notes: https://doi-org.proxy.library.upenn.edu/10.1111/epi.17444.
Goff, K.M., Jiang, E., Somarowthu, A., Goldberg, E.M.: VIP interneuron dysfunction underlies impaired neocortical state transitions and behavior in a model of Dravet syndrome (38)
Poster presentation at the Gordon Research Conference: Mechanisms of Epilepsy and Neuronal Synchronization. Barcelona, Spain. July 2022.
Lawlor, P.N., Goldberg, E.M.: Dynamic fluorescence imaging in experimental epilepsy
Epilepsy Currents 22(6), Jul 2022.
Fadila, S., Beucher, B., González-Dopeso Reyes, I., Mavashov, A., Brusel, M., Anderson, K., Goldberg, E.M., Ricobaraza, A., Hernandez-Alcoceba, R., Kremer, E.J., Rubinstein, M.: Exogenous NaV1.1 activity in excitatory and inhibitory neurons reverts Dravet syndrome comorbidities when delivered post-symptom onset in mice with Dravet. bioRxiv 2022.06.10.495591, June 2022 Notes: doi: https://doi.org/10.1101/2022.06.10.495591.
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. Cell Reports March 2022.
Schwarz, N., Seiffert, S., Pendziwiat, M., [...], Goldberg, E.M., Zara, F., Lal, D., May, P., Muhle, H., Helbig., I., Weber, Y.: Spectrum of phenotypic, genetic, and functional characteristics in epilepsy patients with KCNC2 pathogenic variants. Neurology March 2022.
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. eLife February 2022.
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Last updated: 06/01/2023
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