Displaying 1 - 50 of 82CSV
Rong, M., Marques, P. T., Ali, Q. Z., Morcos, R., Chandran, I., Qaiser, F., Møller, R. S., Bayat, A., Rubboli, G., Gardella, E., Reuter, M. S., Sands, T. T., Scheffer, I. E., Schneider, A., Poduri, A., Wirrell, E., Nabbout, R., Sullivan, J., Valente, K., … Andrade, D. M. (2025). Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy. Epilepsia. Portico. https://doi.org/10.1111/epi.18346
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Hodgson, A. K. O., Baxandall, L., Aiyedun, D., Li, A., Au, P. Y. B., Bain, J. M., Gillentine, M. A., Goel, H., Kline, A. D., Ricupero, C. L., Sánchez‐Carpintero, R., Seward, E. P., Sidlow, R., Wilson, S. A., & Balasubramanian, M. (2025). Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.64013
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Dharmadhikari, A. V., Abad, M. A., Khan, S., Maroofian, R., Sands, T. T., Ullah, F., Samejima, I., Shen, Y., Wear, M. A., Moore, K. E., Kondakova, E., Mitina, N., Schaub, T., Lee, G. K., Umandap, C. H., Berger, S. M., Iglesias, A. D., Popp, B., Abou Jamra, R., … Liao, J. (2025). RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56876-w
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Rifkin, R. A., Wu, X., Pereira, B., Gill, B. JA., Merricks, E. M., Michalak, A. J., Goldberg, A. R., Humala, N., Dovas, A., Rai, G., McKhann, G. M., Slesinger, P. A., Canoll, P., & Schevon, C. (2025). A selective small-molecule agonist of G protein-gated inwardly-rectifying potassium channels reduces epileptiform activity in mouse models of tumor-associated and provoked seizures. Neuropharmacology, 265, 110259. https://doi.org/10.1016/j.neuropharm.2024.110259
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de Curtis, M., Asukile, M., Battaglia, G., Sellin, A., Cavalheiro, E., Galovic, M., Gelinas, J. N., Ikeda, A., Patel, M., Perucca, P., Potschka, H., Rocha, L., Triki, C., Wilmshurst, J. M., Gaillard, W., Deleo, F., Cendes, F., Cross, J. H., & Galanopoulou, A. S. (2024). Basic and preclinical epilepsy research Scientists’ perception of clinical epileptology. Epilepsia. Portico. https://doi.org/10.1111/epi.18186
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Barcia Aguilar, C., Amengual-Gual, M., Brenton, J. N., Chapman, K. E., Clark, J., Gaillard, W. D., Goldstein, J. L., Goodkin, H. P., Kahoud, R., Lai, Y.-C., Mikati, M. A., Morgan, L. A., Payne, E. T., Press, C. A., Reece, L., Sands, T. T., Sannagowdara, K., Sheehan, T., Shellhaas, R. A., … Loddenkemper, T. (2024). Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children. Seizure: European Journal of Epilepsy, 123, 133–141. https://doi.org/10.1016/j.seizure.2024.10.017
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Moertel, C. L., Hirbe, A. C., Shuhaiber, H. H., Bielamowicz, K., Sidhu, A., Viskochil, D., Weber, M. D., Lokku, A., Smith, L. M., Foreman, N. K., Hajjar, F. M., McNall-Knapp, R. Y., Weintraub, L., Antony, R., Franson, A. T., Meade, J., Schiff, D., Walbert, T., Ambady, P., … Sadighi, Z. (2024). ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. Journal of Clinical Oncology. https://doi.org/10.1200/jco.24.01034
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Santana Almansa, A., Snyder, L. G., Chung, W. K., Bain, J. M., & Srivastava, S. (2024). Motor phenotypes associated with genetic neurodevelopmental disorders. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52231
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Marques, P., Moloney, P. B., Ji, C., Zulfiqar Ali, Q., Ramesh, A., Goldstein, D. B., Barboza, K., Chandran, I., Rong, M., Selvarajah, A., Qaiser, F., Lira, V. S. T., Valiante, T. A., Bazil, C. W., Choi, H., Devinsky, O., Depondt, C., O’Brien, T., Perucca, P., … Andrade, D. M. (2024). Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy? Epilepsy Research, 206, 107425. https://doi.org/10.1016/j.eplepsyres.2024.107425
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Firestein, M. R., Manessis, A., Warmingham, J. M., Xu, R., Hu, Y., Finkel, M. A., Kyle, M., Hussain, M., Ahmed, I., Lavallée, A., Solis, A., Chaves, V., Rodriguez, C., Goldman, S., Muhle, R. A., Lee, S., Austin, J., Silver, W. G., O’Reilly, K. C., … Dumitriu, D. (2024). Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic. JAMA Network Open, 7(9), e2435005. https://doi.org/10.1001/jamanetworkopen.2024.35005
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Davis, T. J., Salazar, R., Beenders, S., Boehme, A., LaMarca, N. M., & Bain, J. M. (2023). A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder. Advances in Neurodevelopmental Disorders, 8(3), 445–456. https://doi.org/10.1007/s41252-023-00346-1
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Pelham‐Webb, B., Guo, Y., Ramirez, A., Waldron, E., Emmanuele, V., Vargas, W., Kahn, J., & Stone, E. F. (2024). When transfusion causes a splitting headache: A case report and rapid review of transfusion‐associated reversible cerebral vasoconstriction syndrome. Transfusion. Portico. https://doi.org/10.1111/trf.17984
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Jones, D. J., Soundararajan, D., Taylor, N. K., Aimiuwu, O. V., Mathkar, P., Shore, A., Teoh, J. J., Wang, W., Sands, T. T., Weston, M. C., Harper, S. Q., & Frankel, W. N. (2024). Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy. Molecular Therapy. https://doi.org/10.1016/j.ymthe.2024.08.009
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Ziegler, A., Carroll, J., Bain, J. M., Sands, T. T., Fee, R. J., Uher, D., Kanner, C. H., Montes, J., Glass, S., Douville, J., Mignon, L., Gleeson, J. G., Crooke, S. T., & Chung, W. K. (2024). Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nature Medicine. https://doi.org/10.1038/s41591-024-03197-y
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Sudnawa, K. K., Li, W., Calamia, S., Kanner, C. H., Bain, J. M., Abdelhakim, A. H., Geltzeiler, A., Mebane, C. M., Provenzano, F. A., Sands, T. T., Fee, R. J., Montes, J., Shen, Y., & Chung, W. K. (2024). Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genetics in Medicine, 26(8), 101169. https://doi.org/10.1016/j.gim.2024.101169
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Barbour, K., Tian, N., Yozawitz, E. G., Wolf, S., McGoldrick, P. E., Sands, T. T., Nelson, A., Basma, N., & Grinspan, Z. M. (2024). Population‐based study of rare epilepsy incidence in a US urban population. Epilepsia, 65(8), 2341–2353. Portico. https://doi.org/10.1111/epi.18029
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Radmard, S., Bassetti, J. A., Mandel, A. M., & Katus, L. (2024). Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement. Movement Disorders Clinical Practice. Portico. https://doi.org/10.1002/mdc3.14127
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Francoeur, C., Alcamo, A. M., Robertson, C. L., Wainwright, M. S., Roa, J. D., Lovett, M. E., Stulce, C., Yacoub, M., Potera, R. M., Zivick, E., Holloway, A., Nagpal, A., Wellnitz, K., Even, K. M., Brunow de Carvalho, W., Rodriguez, I. S., Schwartz, S. P., Walker, T. C., … Campos-Miño, S. (2024). Severe Pediatric Neurological Manifestations With SARS-CoV-2 or MIS-C Hospitalization and New Morbidity. JAMA Network Open, 7(6), e2414122. https://doi.org/10.1001/jamanetworkopen.2024.14122
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Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Scalco, R. S., Fontoura, P., & Muntoni, F. (2024). JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of Neurology, 271(8), 4871–4884. https://doi.org/10.1007/s00415-024-12318-z
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Ma, L., Wisniewski, D. J., Cea, C., Khodagholy, D., & Gelinas, J. N. (2024). High‐Density, Conformable Conducting Polymer‐Based Implantable Neural Probes for the Developing Brain. Advanced Healthcare Materials. Portico. https://doi.org/10.1002/adhm.202304164
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Zhao, Z., Yu, H., Wisniewski, D. J., Cea, C., Ma, L., Trautmann, E. M., Churchland, M. M., Gelinas, J. N., & Khodagholy, D. (2024). Formation of Anisotropic Conducting Interlayer for High‐Resolution Epidermal Electromyography Using Mixed‐Conducting Particulate Composite. Advanced Science, 11(27). Portico. https://doi.org/10.1002/advs.202308014
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Albers, J., Bagos-Estevez, A., Snyder, L. G., Tsalatsanis, A., Boehme, A., & Bain, J. M. (2024). Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection. Research in Autism Spectrum Disorders, 111, 102326. https://doi.org/10.1016/j.rasd.2024.102326
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Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., Ho, Y. M., Grote, P., Lindenberg, T. T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., … McBride, K. (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. Npj Genomic Medicine, 9(1). https://doi.org/10.1038/s41525-024-00398-9
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Sudnawa, K. K., Garber, A., Cohen, R., Calamia, S., Kanner, C. H., Montes, J., Bain, J. M., Fee, R. J., & Chung, W. K. (2024). Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clinical Genetics, 105(5), 523–532. Portico. https://doi.org/10.1111/cge.14487
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Kowanda, M., Calakos, K., Snyder, L. G., Kentros, C., Bain, J., Srivastava, S., Sands, T., Schratt, G., Taylor, C., & Chung, W. (2024). P152: Seizure severity across neurogenetic conditions in Simons Searchlight*. Genetics in Medicine Open, 2, 101049. https://doi.org/10.1016/j.gimo.2024.101049
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Rauhala, O. J., Ma, L., Wisniewski, D. J., Shao, S., Schumacher, B., Lopez, J. F., Kaspers, M., Zhao, Z., Gelinas, J. N., & Khodagholy, D. (2024). E‐Suture: Mixed‐Conducting Suture for Medical Devices. Advanced Healthcare Materials. Portico. https://doi.org/10.1002/adhm.202302613
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Yu, H., Kim, W., Park, D. K., Phi, J. H., Lim, B. C., Chae, J., Kim, S., Kim, K. J., Provenzano, F. A., Khodagholy, D., & Gelinas, J. N. (2023). Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy. Epilepsia, 65(1), 190–203. Portico. https://doi.org/10.1111/epi.17810
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Khair, A. M., McIlvain, G., McGarry, M. D. J., Kandula, V., Yue, X., Kaur, G., Averill, L. W., Choudhary, A. K., Johnson, C. L., & Nikam, R. M. (2023). Clinical application of magnetic resonance elastography in pediatric neurological disorders. Pediatric Radiology, 53(13), 2712–2722. https://doi.org/10.1007/s00247-023-05779-3
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Cea, C., Zhao, Z., Wisniewski, D. J., Spyropoulos, G. D., Polyravas, A., Gelinas, J. N., & Khodagholy, D. (2023). Integrated internal ion-gated organic electrochemical transistors for stand-alone conformable bioelectronics. Nature Materials, 22(10), 1227–1235. https://doi.org/10.1038/s41563-023-01599-w
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Myers, S. J., Yuan, H., Perszyk, R. E., Zhang, J., Kim, S., Nocilla, K. A., Allen, J. P., Bain, J. M., Lemke, J. R., Lal, D., Benke, T. A., & Traynelis, S. F. (2023). Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Human Molecular Genetics, 32(19), 2857–2871. https://doi.org/10.1093/hmg/ddad104
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Barbour, K., Tian, N., Yozawitz, E. G., Wolf, S., McGoldrick, P. E., Sands, T. T., Nelson, A., Basma, N., & Grinspan, Z. M. (2023). Creating rare epilepsy cohorts using keyword search in electronic health records. Epilepsia, 64(10), 2738–2749. Portico. https://doi.org/10.1111/epi.17725
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Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M., Gillentine, M. A., … Zuchner, S. (2023). HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110(8), 1414–1435. https://doi.org/10.1016/j.ajhg.2023.07.005
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Peariso, K., Arya, R., Glauser, T., Abend, N. S., Barcia Aguilar, C., Amengual-Gual, M., Anderson, A., Appavu, B. L., Brenton, J. N., Carpenter, J., Chapman, K. E., Clark, J., Gaillard, W. D., Gaínza-Lein, M., Goldstein, J., Goodkin, H., Grinspan, Z., Guerriero, R. M., Horn, P. S., … Seltzer, L. (2023). Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children. Neurology, 101(5). https://doi.org/10.1212/wnl.0000000000207472
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Albers, J., Kraja, G., Eller, D., Eck, K., McBrian, D., & Bain, J. M. (2023). Assessing the feasibility of using the ketogenic diet in autism spectrum disorder. Journal of Human Nutrition and Dietetics, 36(4), 1303–1315. Portico. https://doi.org/10.1111/jhn.13115
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Armada-Moreira, A., Dar, A. M., Zhao, Z., Cea, C., Gelinas, J., Berggren, M., Costa, A., Khodagholy, D., & Stavrinidou, E. (2023). Plant electrophysiology with conformable organic electronics: Deciphering the propagation of Venus flytrap action potentials. Science Advances, 9(30). https://doi.org/10.1126/sciadv.adh4443
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Agrawal, R. R., Larrea, D., Xu, Y., Shi, L., Zirpoli, H., Cummins, L. G., Emmanuele, V., Song, D., Yun, T. D., Macaluso, F. P., Min, W., Kernie, S. G., Deckelbaum, R. J., & Area-Gomez, E. (2022). Alzheimer’s-Associated Upregulation of Mitochondria-Associated ER Membranes After Traumatic Brain Injury. Cellular and Molecular Neurobiology, 43(5), 2219–2241. https://doi.org/10.1007/s10571-022-01299-0
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Ramirez, A., Jonokuchi, A., Hijiya, N., Gomes, W., Wesley, S., & Kaur, G. (2023). IMMU-19. NIVOLUMAB-INDUCED CNS DEMYELINATION IN A 15-YEAR-OLD WITH CLASSIC HODGKIN LYMPHOMA. Neuro-Oncology, 25(Supplement_1), i53–i53. https://doi.org/10.1093/neuonc/noad073.206
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Rodriguez-Torres, R. S., Uher, D., Gay, E. L., Coratti, G., Dunaway Young, S., Rohwer, A., Muni Lofra, R., De Vivo, D. C., Hirano, M., Glynn, N. W., & Montes, J. (2023). Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities. Journal of Clinical Medicine, 12(10), 3458. https://doi.org/10.3390/jcm12103458
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Tayebi, N., Leon‐Ricardo, B., McCall, K., Mehinovic, E., Engelstad, K., Huynh, V., Turner, T. N., Weisenberg, J., Thio, L. L., Hruz, P., Williams, R. S. B., De Vivo, D. C., Petit, V., Haller, G., & Gurnett, C. A. (2023). Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. Annals of Clinical and Translational Neurology, 10(5), 787–801. Portico. https://doi.org/10.1002/acn3.51767
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Firestein, M. R., Shuffrey, L. C., Hu, Y., Kyle, M., Hussain, M., Bianco, C., Hott, V., Hyman, S. P., Kyler, M., Rodriguez, C., Tejeda Romero, M., Tzul Lopez, H., Alcántara, C., Amso, D., Austin, J., Bain, J. M., Barbosa, J., Battarbee, A. N., Bruno, A., … Dumitriu, D. (2023). Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy. JAMA Network Open, 6(4), e237396. https://doi.org/10.1001/jamanetworkopen.2023.7396
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Monfrini, E., Pesini, A., Biella, F., Sobreira, C. F. R., Emmanuele, V., Brescia, G., Lopez, L. C., Tadesse, S., Hirano, M., Comi, G. P., Quinzii, C. M., & Di Fonzo, A. (2023). Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology Genetics, 9(2). https://doi.org/10.1212/nxg.0000000000200058
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Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., … Collado, J. (2023). Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy, 12(2), 543–557. https://doi.org/10.1007/s40120-023-00444-1
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Dahal, P., Rauhala, O. J., Khodagholy, D., & Gelinas, J. N. (2023). Hippocampal–cortical coupling differentiates long-term memory processes. Proceedings of the National Academy of Sciences, 120(7). https://doi.org/10.1073/pnas.2207909120
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McGee, S. R., Rajamanickam, S., Adhikari, S., Falayi, O. C., Wilson, T. A., Shayota, B. J., Cooley Coleman, J. A., Skinner, C., Caylor, R. C., Stevenson, R. E., Quaio, C. R. D. A. C., Wilke, B. C., Bain, J. M., Anyane-Yeboa, K., Brown, K., Greally, J. M., Bijlsma, E. K., Ruivenkamp, C. A. L., Politi, K., … Jensik, P. J. (2022). Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human Molecular Genetics, 32(3), 386–401. https://doi.org/10.1093/hmg/ddac200
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Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., … Kalscheuer, V. M. (2022). Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry, 28(2), 668–697. https://doi.org/10.1038/s41380-022-01852-9
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