My Bibliography

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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. doi: 10.7554/eLife.69293. PubMed PMID: 35212623; PubMed Central PMCID: PMC8920506.

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Somarowthu A, Goff KM, Goldberg EM. Two-photon calcium imaging of seizures in awake, head-fixed mice. Cell Calcium. 2021 Jun;96:102380. doi: 10.1016/j.ceca.2021.102380. Epub 2021 Feb 22. PubMed PMID: 33676317; PubMed Central PMCID: PMC8187286.

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Goff KM, Goldberg EM. A Role for Vasoactive Intestinal Peptide Interneurons in Neurodevelopmental Disorders. Dev Neurosci. 2021;43(3-4):168-180. doi: 10.1159/000515264. Epub 2021 Apr 1. Review. PubMed PMID: 33794534; PubMed Central PMCID: PMC8440337.

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Goldberg EM. Getting a Foot IN the Door: GABAergic INterneuron-Specific Enhancers. Epilepsy Curr. 2021 Mar;21(2):114-116. doi: 10.1177/1535759720985841. Epub 2021 Jan 7. PubMed PMID: 33412946; PubMed Central PMCID: PMC8010863.

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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.25809. Epub 2020 Jul 9. PubMed PMID: 32515017; PubMed Central PMCID: PMC8552104.

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Somarowthu A, Goldberg EM. 2P or not 2P: The Question of Seizure Initiation. Epilepsy Curr. 2020 Jul 20;20(5):1535759720941023. doi: 10.1177/1535759720941023. [Epub ahead of print] PubMed PMID: 32686512; PubMed Central PMCID: PMC7653658.

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Qian X, Su Y, Adam CD, Deutschmann AU, Pather SR, Goldberg EM, Su K, Li S, Lu L, Jacob F, Nguyen PTT, Huh S, Hoke A, Swinford-Jackson SE, Wen Z, Gu X, Pierce RC, Wu H, Briand LA, Chen HI, Wolf JA, Song H, Ming GL. Sliced Human Cortical Organoids for Modeling Distinct Cortical Layer Formation. Cell Stem Cell. 2020 May 7;26(5):766-781.e9. doi: 10.1016/j.stem.2020.02.002. Epub 2020 Mar 5. PubMed PMID: 32142682; PubMed Central PMCID: PMC7366517.

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Tran CH, Vaiana M, Nakuci J, Somarowthu A, Goff KM, Goldstein N, Murthy P, Muldoon SF, 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. Epub 2020 Feb 26. PubMed PMID: 32102923; PubMed Central PMCID: PMC7096149.

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Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Spectrum of K(V) 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. PubMed PMID: 31600826; PubMed Central PMCID: PMC7025436.

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Li J, Ryan SK, Deboer E, Cook K, Fitzgerald S, Lachman HM, Wallace DC, Goldberg EM, Anderson SA. Mitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia. Transl Psychiatry. 2019 Nov 18;9(1):302. doi: 10.1038/s41398-019-0643-y. PubMed PMID: 31740674; PubMed Central PMCID: PMC6861238.

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Zaman T, Abou Tayoun A, 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/acn3.50839. Epub 2019 Jul 23. PubMed PMID: 31402610; PubMed Central PMCID: PMC6689675.

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Goff KM, Goldberg EM. Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome. Elife. 2019 Jul 8;8. doi: 10.7554/eLife.46846. PubMed PMID: 31282864; PubMed Central PMCID: PMC6629374.

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Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Netw Open. 2019 Apr 5;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129. PubMed PMID: 30977854; PubMed Central PMCID: PMC6481455.

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Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, 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 JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. PubMed PMID: 30206421; PubMed Central PMCID: PMC6752297.

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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.0193-18.2018. Epub 2018 Aug 13. PubMed PMID: 30104343; PubMed Central PMCID: PMC6125809.

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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. PubMed PMID: 29466837; PubMed Central PMCID: PMC5912987.

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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. PubMed PMID: 28950998; PubMed Central PMCID: PMC5679277.

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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. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. PubMed PMID: 28806457; PubMed Central PMCID: PMC5710242.

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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. PubMed PMID: 28377535; PubMed Central PMCID: PMC5656050.

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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. PubMed PMID: 27864268; PubMed Central PMCID: PMC5226060.

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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 Nov;4(6):599-603. doi: 10.1002/mgg3.236. eCollection 2016 Nov. PubMed PMID: 27896282; PubMed Central PMCID: PMC5118204.

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Harding B, Vossough A, Goldberg E, Santi M. Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. Neuropathol Appl Neurobiol. 2016 Apr;42(3):301-6. doi: 10.1111/nan.12281. Epub 2015 Sep 25. PubMed PMID: 26331236.

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Natan RG, Briguglio JJ, Mwilambwe-Tshilobo L, Jones SI, Aizenberg M, Goldberg EM, Geffen MN. Complementary control of sensory adaptation by two types of cortical interneurons. Elife. 2015 Oct 13;4. doi: 10.7554/eLife.09868. PubMed PMID: 26460542; PubMed Central PMCID: PMC4641469.

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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. PubMed PMID: 25804737; PubMed Central PMCID: PMC4378243.

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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. PubMed PMID: 25517456.

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Bearden D, Strong A, Ehnot J, DiGiovine M, Dlugos D, Goldberg EM. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol. 2014 Sep;76(3):457-61. doi: 10.1002/ana.24229. Epub 2014 Jul 26. PubMed PMID: 25042079.

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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 Jul 15;23(14):3823-9. doi: 10.1093/hmg/ddu095. Epub 2014 Feb 25. PubMed PMID: 24569167; PubMed Central PMCID: PMC4065155.

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Lang SS, Goldberg E, Zarnow D, Johnson MP, Storm PB, Heuer GG. Prenatal diagnosis of hemimegalencephaly. World Neurosurg. 2014 Jul-Aug;82(1-2):241.e5-8. doi: 10.1016/j.wneu.2013.09.028. Epub 2013 Sep 19. PubMed PMID: 24056222.

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Turkeltaub PE, Goldberg EM, Postman-Caucheteux WA, Palovcak M, Quinn C, Cantor C, Coslett HB. Alexia due to ischemic stroke of the visual word form area. Neurocase. 2014 Apr;20(2):230-5. doi: 10.1080/13554794.2013.770873. Epub 2013 Mar 25. PubMed PMID: 23528139.

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Matalon D, Goldberg E, Medne L, Marsh ED. Confirming an expanded spectrum of SCN2A mutations: a case series. Epileptic Disord. 2014 Mar;16(1):13-8. doi: 10.1684/epd.2014.0641. PubMed PMID: 24659627.

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Goldberg EM, Titulaer M, de Blank PM, 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. 2014 Feb;50(2):181-4. doi: 10.1016/j.pediatrneurol.2013.10.002. Epub 2013 Oct 14. Review. PubMed PMID: 24315538.

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Abend NS, Wusthoff CJ, Goldberg EM, Dlugos DJ. Electrographic seizures and status epilepticus in critically ill children and neonates with encephalopathy. Lancet Neurol. 2013 Dec;12(12):1170-9. doi: 10.1016/S1474-4422(13)70246-1. Review. PubMed PMID: 24229615.

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Goldberg EM, Coulter DA. Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction. Nat Rev Neurosci. 2013 May;14(5):337-49. doi: 10.1038/nrn3482. Epub 2013 Apr 18. Review. PubMed PMID: 23595016; PubMed Central PMCID: PMC3982383.

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Goldberg EM. Fever and bulging fontanelle mimicking meningitis in an infant diagnosed with benign intracranial hypertension. Pediatr Emerg Care. 2013 Apr;29(4):513-4. doi: 10.1097/PEC.0b013e31828a3a28. PubMed PMID: 23558272.

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Goldberg EM, Taub KS, Kessler SK, Abend NS. Anti-NMDA receptor encephalitis presenting with focal non-convulsive status epilepticus in a child. Neuropediatrics. 2011 Oct;42(5):188-90. doi: 10.1055/s-0031-1295408. Epub 2011 Nov 22. PubMed PMID: 22109736; PubMed Central PMCID: PMC3414262.

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Goldberg EM, Schwartz ES, Younkin D, Myers SR. Atypical syncope in a child due to a colloid cyst of the third ventricle. Pediatr Neurol. 2011 Nov;45(5):331-4. doi: 10.1016/j.pediatrneurol.2011.08.005. Review. PubMed PMID: 22000315.

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Coulter DA, Yue C, Ang CW, Weissinger F, Goldberg E, Hsu FC, Carlson GC, Takano H. Hippocampal microcircuit dynamics probed using optical imaging approaches. J Physiol. 2011 Apr 15;589(Pt 8):1893-903. doi: 10.1113/jphysiol.2010.202184. Epub 2011 Jan 10. Review. PubMed PMID: 21224219; PubMed Central PMCID: PMC3090592.

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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):666-82. doi: 10.1093/cercor/bhq138. Epub 2010 Aug 12. PubMed PMID: 20705896; PubMed Central PMCID: PMC3041012.

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Goldberg EM, Balamuth F, Desrochers CR, Mittal MK. Seizure and altered mental status in a 12-year-old child with Shigella sonnei gastroenteritis. Pediatr Emerg Care. 2011 Feb;27(2):135-7. doi: 10.1097/PEC.0b013e318209f0a0. PubMed PMID: 21293224.

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Clark BD, Goldberg EM, Rudy B. Electrogenic tuning of the axon initial segment. Neuroscientist. 2009 Dec;15(6):651-68. doi: 10.1177/1073858409341973. Review. PubMed PMID: 20007821; PubMed Central PMCID: PMC2951114.