Pediatric Neurology; Neurology; Epilepsy; Neurogenetics; Epiepsy Neurogenetics; Developmental Delay; Autism Spectrum Disorder.
Epilepsy; Neurobiology of Disease; Physiology; Ion channels; Two-photon imaging.
Selected Publications
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.
Clatot, J., Parthasarathy, S., Cohen, S., McKee, J., Massey, S., Somarowthu, A., Goldberg, E.M., Helbig, I.: The SCN1A Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathy. bioRxiv June 2022 Notes: https://doi.org/10.1101/2022.06.29.498154.
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.
Jiang, E., Fitzgerald, M.P., Helbig, K.L., Goldberg, E.M.: IL1RAPL1 gene deletion in a female patient with developmental delay and continuous spike-wave during sleep.
Journal of Pediatric Epilepsy 11(1): 21-26, January 2022.
Cuddapah, V.A., Goldberg, E.M.: REVing up the brain: A mechanism driving seizure timing. Epilepsy Currents 22(1), Jan-Feb 2022.
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 2022.
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Last updated: 12/05/2022
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