Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse modelPreprint

Hua, Y., Sahashi, K., Hung, G., Rigo, F., Passini, M. A., Bennett, C. F., & Krainer, A. R. (2010) · Genes & Development · doi:10.1101/gad.1941310 · Cited by 680

The core Dravet syndrome phenotype

Dravet, C. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02994.x · Cited by 630

Mortality in Dravet syndrome

Cooper, M. S., McIntosh, A. M., Crompton, D. E., McMahon, J. M., Schneider, A., Farrell, K., Ganesan, V., Gill, D. S., Kivity, S., Lerman‐Sagie, T., et al. (2016) · Epilepsy Research · doi:10.1016/j.eplepsyres.2016.10.006 · Cited by 323

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

Wirrell, E. C., Laux, L., Donner, E. J., Jetté, N., Knupp, K. G., Meskis, M. A., Miller, I., Sullivan, J. E., Welborn, M., & Berg, A. T. (2017) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.01.025 · Cited by 287

The genetics of Dravet syndrome

Marini, C., Scheffer, I. E., Nabbout, R., Suls, A., Jonghe, P. D., Zara, F., & Guerrini, R. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02997.x · Cited by 276

Incidence of Dravet Syndrome in a US Population

Wu, Y. W., Sullivan, J., McDaniel, S. S., Meisler, M. H., Walsh, E. M., Li, S. X., & Kuzniewicz, M. W. (2015) · Pediatrics · doi:10.1542/peds.2015-1807 · Cited by 248

dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice

Colasante, G., Lignani, G., Brusco, S., Berardino, C. D., Carpenter, J. C., Giannelli, S. G., Valassina, N., Bido, S., Ricci, R., Castoldi, V., et al. (2019) · Molecular Therapy · doi:10.1016/j.ymthe.2019.08.018 · Cited by 246

Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy

Corey, D. R. (2017) · Nature Neuroscience · doi:10.1038/nn.4508 · Cited by 242

Cannabinoids in treatment-resistant epilepsy: A review

O’Connell, B. K., Gloss, D. S., & Devinsky, O. (2017) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2016.11.012 · Cited by 228

Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression

Lim, K., Zhou, H., Jeon, H. Y., Kach, J., Jing, E., Weyn‐Vanhentenryck, S. M., Downs, M., Corrionero, A., Oh, R. S., Scharner, J., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17093-9 · Cited by 216

Structure-function relationship of new peptides activating human Nav1.1

Lopez, L., Waard, S. D., Meudal, H., Caumes, C., Khakh, K., Peigneur, S., Oliveira-Mendes, B. B. R., Lin, S., Waele, J. D., Montnach, J., et al. (2023) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2023.115173 · Cited by 5

Brain somatic mutations as RNA therapeutic targets in neurological disorders

Lee, S., & Lee, J. H. (2022) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14786 · Cited by 5

Optogenetic and chemogenetic manipulation of seizure threshold in mice

Kravchenko, J. A., Goldberg, E. M., & Mattis, J. (2023) · STAR Protocols · doi:10.1016/j.xpro.2022.102019 · Cited by 4

Modulation of GABAergic neurons in acute epilepsy using sonogenetics

Phan, T.-N., Fan, C., Wang, H., Liu, H., Lin, Y., & Yeh, C. (2024) · Journal of Controlled Release · doi:10.1016/j.jconrel.2024.11.029 · Cited by 4

Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics

Hammer, M. F. (2025) · Bioscience Reports · doi:10.1042/bsr20253356 · Cited by 5

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model

Reever, C. M., Boscia, A. R., Deutsch, T. C. J., Patel, M. P., Miralles, R. M., Kittur, S., Fleischel, E. J., Buo, A. M., Yorek, M. S., Meisler, M. H., et al. (2026) · Journal of Clinical Investigation · doi:10.1172/jci196402 · Cited by 7

The Versatile Applications of Antisense Oligonucleotides in Modern Medicine

Liang, X., & Zhang, L. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27125612 · Cited by 5

Voltage-Gated Sodium Channels as Drug Targets in Epilepsy-Related Sodium Channelopathies

Wengert, E. R., Miralles, R. M., & Patel, M. K. (2024) · Springer eBooks · doi:10.1007/978-3-031-52197-3_4 · Cited by 4

Relative Quantification of NaV1.1 Protein in Mouse Brains Using a Meso Scale Discovery-Electrochemiluminescence (MSD-ECL) Method

Zhou, H., Christiansen, A., Meena, M., & Liau, G. (2021) · BIO-PROTOCOL · doi:10.21769/bioprotoc.3910 · Cited by 4

Emerging Gene-Based Pathways: Channelopathies (Epilepsy and Beyond)

George, A. L. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00053-6 · Cited by 3

A crash course in genomics for epilepsy clinicians

Moloney, P. B., & Delanty, N. (2025) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2025.110553 · Cited by 3

Voltage sensor interaction site for a selective small molecule Nav1.1 sodium channel potentiator that enhances firing of fast-spiking interneurons

Gallucci, A., Potet, F., Santos, S., Lin, Z., Theile, J. W., Yoger, K., Ren, W., Wang, L., Lebreton, S., Attinost, I., et al. (2025) · Molecular Pharmacology · doi:10.1016/j.molpha.2025.100072 · Cited by 3

Time to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvement

Carson, R. A., Pacheco, J. E. M., Abath, C. B., & Achkar, C. M. E. (2025) · Epilepsia · doi:10.1111/epi.18666 · Cited by 3

Genetic therapies for neurological diseases

Rahim, A. A., Kurian, M. A., Zhou, H., Ferguson, R., Tabrizi, S. J., Lignani, G., Aquilina, K., & Waddington, S. N. (2025) · Pharmacological Reviews · doi:10.1016/j.pharmr.2025.100093 · Cited by 4

Dravet syndrome therapeutics: where are we, what works, and what’s next?

Bagchi, V. A., Ziobro, J. M., & Isom, L. L. (2025) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2025.2576608 · Cited by 3

Variability vs. phenotype: Multimodal analysis of Dravet syndrome brain organoids powered by deep learning

Turpín, I., Modrego, A., Martí-Sarrias, A., García‐González, L., Ortega-Gascó, A., Haeb, A.-C., Pareja, R. I., Soriano, J., Ruíz, N., Peñuelas‐Haro, I., et al. (2025) · iScience · doi:10.1016/j.isci.2025.113831 · Cited by 6

Engineering a human-based translational activator for targeted protein expression restoration

Sinnott, R. W., Solanki, A., Govind, A. P., Green, W. N., & Dickinson, B. C. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag113 · Cited by 3

Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances

Shi, Z., Li, S., & Jin, X. K. (2026) · Frontiers in Bioscience-Landmark · doi:10.31083/fbl43770 · Cited by 3

Current perspectives in sudden unexpected death in epilepsy (SUDEP): epidemiology, research approaches and pathways to prevention

Mann, C., Schubert-Bast, S., Rosenow, F., & Strzelczyk, A. (2026) · Neurological Research and Practice · doi:10.1186/s42466-026-00480-w · Cited by 3

SLC6A1–Related Neurodevelopmental Disorder: A Scoping Review of Clinical Features and Emerging Therapeutic Strategies

Samanta, D. (2026) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2026.04.014 · Cited by 3

Microglial activation is inhibited by selective anti-seizure medications

Platow, R. J., Pommer, S., Brauer, J., Wang, Y., Mani, S., & Kaindl, A. M. (2025) · Inflammation Research · doi:10.1007/s00011-025-02076-7 · Cited by 4

Proceedings of the 2020 Epilepsy Foundation Pipeline Conference: Emerging Drugs and Devices

Boada, C. M., Grossman, S. N., Grzeskowiak, C. L., Dumanis, S. B., & French, J. A. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108364 · Cited by 3

All our knowledge begins with the antisenses

Goldberg, E. M. (2021) · Journal of Clinical Investigation · doi:10.1172/jci155233 · Cited by 3

Targeting Alternative Splicing for Therapeutic Interventions

Centa, J. L., & Hastings, M. L. (2022) · Methods in molecular biology · doi:10.1007/978-1-0716-2521-7_2 · Cited by 3

The Promising Epigenetic Regulators for Refractory Epilepsy: An Adventurous Road Ahead

Suvekbala, V., Ramachandran, H., Veluchamy, A., Bruno-Mascarenhas, M., Ramprasath, T., Nair, M. K. C., Garikipati, V. N. S., Gundamaraju, R., & Ramasamy, S. (2022) · NeuroMolecular Medicine · doi:10.1007/s12017-022-08723-0 · Cited by 3

Respiratory Patterns in Neurological Injury, Pathophysiology, Ventilation Management, and Future Innovations: A Systematic Review

Goldman, M., Lucke-Wold, B. P., Katz, J., Dawoud, B., & Dagra, A. (2022) · Exploratory Research and Hypothesis in Medicine · doi:10.14218/erhm.2022.00081 · Cited by 3

Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE

Nott, E., Behl, K. E., Brambilla, I., Green, T. E., Lucente, M., Vavassori, R., Watson, A., Bernardina, B. D., & Hildebrand, M. S. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104680 · Cited by 3

Investigational new drugs for the treatment of Dravet syndrome: an update

Јаnkovic, S., Janković, S. V., Vojinovic, R. H., & Lukić, S. (2023) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2023.2193680 · Cited by 2

Major advances in epilepsy research in 2023

Hullett, P. W., & Lowenstein, D. H. (2023) · The Lancet Neurology · doi:10.1016/s1474-4422(23)00457-x · Cited by 3

SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature

LaFlamme, C. W., Karimi, K., Rastin, C., Fuerte, E. P. A., Allan, T. J., Russ-Hall, S. J., Schneider, A., Stobo, D., Lesca, G., Symonds, J. D., et al. (2025) · Epilepsia · doi:10.1111/epi.18315 · Cited by 3

Recent advances in RNA-based therapeutics for neurodevelopmental disorders

Tirumala, H. P., & Zoghbi, H. Y. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102339 · Cited by 3

Epilepsy in 2020—a new dawn

Cross, J. H. (2020) · The Lancet Neurology · doi:10.1016/s1474-4422(20)30438-5 · Cited by 3

Novel and emerging therapeutics for genetic epilepsies

Pejčić, A. V., Јаnkovic, S., Đešević, M., Gojak, R., Lukić, S., Marković, N., & Milosavljević, M. N. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1992275 · Cited by 3

Seizure Disorders and Epilepsy

Sontheimer, H. W. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821228-8.00003-2 · Cited by 3

uORF-targeting steric block antisense oligonucleotides do not reproducibly activate RNASEH1 expressionPreprint

Ahlskog, N., Svrzikapa, N., Abuhamdah, R., Kye, M., Jad, Y. E., Feng, N., Hanson, B., Wood, M. J. A., & Roberts, T. C. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.14.598998 · Cited by 3

ENVISIONing a critical period to preserve development: communication delays in SCN1A+ dravet syndrome

Fine, A. L. (2024) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597241280687 · Cited by 3

AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet SyndromePreprint

Chilcott, E. M., Diaz, J. F. A., Almacellas‐Barbanoj, A., Moore, M., Keegan, A., Waddington, Z., Fang, V., Schorge, S., Lignani, G., Waddington, S. N., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.18.664895 · Cited by 3

Toward a Disease-Modifying Therapy for Dravet Syndrome

Carvill, G. L., & Mefford, H. C. (2026) · New England Journal of Medicine · doi:10.1056/nejme2515874 · Cited by 3

KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies

Duan, Y.-Z., Yao, T.-T., Shao, Y., Liu, L., Zhou, H., & Cheng, Y. (2025) · Journal of Neurology · doi:10.1007/s00415-025-13207-9 · Cited by 4

Drug discovery and preclinical testing of drug candidates for developmental and epileptic encephalopathies

Potschka, H., & Pérez‐Pérez, D. (2025) · Epilepsia · doi:10.1111/epi.18581 · Cited by 2

Depolarization block induction via slow NaV1.1 inactivation in Dravet syndrome

Lemaire, L., Desroches, M., Rodrigues, S., & Campillo, F. (2025) · Scientific Reports · doi:10.1038/s41598-025-17468-2 · Cited by 2

Chemical biology of precise RNA targeting and intervention: advances and perspectives

Wu, H., Zhuang, Y., Peng, J., & Yi, C. (2026) · Science China Chemistry · doi:10.1007/s11426-025-3018-0 · Cited by 2

Therapeutic Potential Target of Adenosine for Epilepsy: Focusing on Its Interaction with the Molecular Epileptogenic Network

Zhao, X., Deng, J., Xiong, Z., & Li, T. (2026) · Biomolecules · doi:10.3390/biom16030453 · Cited by 2

Alternative splicing in voltage-gated sodium channels: mechanisms, regulatory networks and therapeutic implications

Qiu, J., Wu, P. J., Zhang, Y., Li, Y., Xia, C., Peng, S., & Sun, J. (2026) · Annals of Medicine · doi:10.1080/07853890.2026.2645735 · Cited by 3

In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model

Nelson, A. T., Hill, S. F., Simon, M., Clatot, J., Sakai, H. A., Xie, J., Sousa, A. A., An, M., Gao, G., Lutz, C. M., et al. (2026) · Science Translational Medicine · doi:10.1126/scitranslmed.adx5999 · Cited by 2

Targeted Treatments for Genetic Epilepsies, Part 1: Channelopathies

Hunter, S. E., Cardwell, E. B., Lea, J. K., Rao, C. K., Samanta, D., Karamian, A. G. S., Karakas, C., Erdemir, G., Fan, Z., Xiong, K., et al. (2026) · Current Treatment Options in Neurology · doi:10.1007/s11940-026-00873-x · Cited by 2

Seizure-suppressor genes: can they help spearhead the discovery of novel therapeutic targets for epilepsy?

Silva-Cardoso, G. K., & N’Gouemo, P. (2023) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2023.2248375 · Cited by 2

Advancements in Dravet Syndrome Therapeutics: A Comprehensive Look at Present and Future Treatment Horizons: A Focused Review

Mahesan, A., Kamila, G., & Gulati, S. (2024) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_49_24 · Cited by 3

Characteristic spatial and frequency distribution of mutations in SCN1A

Zhang, M., Guo, J., Li, B., Liu, K., Zhao, J., Zhang, J., Lin, X., Tang, B., Wang, J., Liao, W., et al. (2024) · Acta Epileptologica · doi:10.1186/s42494-024-00178-z · Cited by 2

Merritt-Putnam Symposium | Developmental and Epileptic Encephalopathies—Current Concepts and Novel Approaches

Scott, R. C., Hsieh, J., McTague, A., Mahoney, J. M., & Christian, C. A. (2025) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597251320142 · Cited by 2

Medial septum parvalbumin‐expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome

Zhu, L., Demetriou, Y., Barden, J., Disla, J., Zhao, M., & Mattis, J. (2025) · Epilepsia · doi:10.1111/epi.18532 · Cited by 2

De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy

Plumereau, Q., Ebdalla, A., Poulin, H., Appendino, J. P., Scantlebury, M. H., Au, P. Y. B., & Chahine, M. (2022) · Scientific Reports · doi:10.1038/s41598-022-22208-x · Cited by 2

Antisense oligonucleotides in rare neurogenetic disorders

Shin, H. J., Ko, A., Oh, J., & Kang, H. (2024) · Journal of genetic medicine · doi:10.5734/jgm.2024.21.2.41 · Cited by 1

Genetische Epilepsien im Kindesalter

von Stülpnagel, C., & Kluger, G. J. (2021) · Monatsschrift Kinderheilkunde · doi:10.1007/s00112-021-01253-2 · Cited by 2

Highlights From AES2020, a Virtual American Epilepsy Society Experience

Jobst, B. C., Conner, K., Coulter, D. A., Fried, I., Guilfoyle, S. M., Hirsch, L. J., Hogan, R. E., Hopp, J. L., Naritoku, D. K., Plueger, M., et al. (2021) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597211018219 · Cited by 2

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readinessPreprint

Brimble, E., Kim, J., Martin, R. L., McKnight, D., & Lacoste, A. M. B. (2023) · medRxiv · doi:10.1101/2023.03.02.23286645 · Cited by 2

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsyPreprint

Happ, H. C., Schneider, P. N., Hong, J. H., Goes, E., Bandouil, M. D., Biar, C. G., Ramamurthy, A., Reese, F., Engel, K. L., Weckhuysen, S., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.04.538282 · Cited by 2

Highlights From the Annual Meeting of the American Epilepsy Society 2022

Valencia, I., Alexander, A., Andrade, D. M., Arevalo-Astrada, M., Rubiños, C., Auer, N., Bainbridge, J. L., Baxendale, S., Bartoloméi, F., Becker, D. A., et al. (2023) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597231187227 · Cited by 2

Deep screening of proximal and distal splicing-regulatory elements in a native sequence contextPreprint

Recinos, Y., Ustianenko, D., Yeh, Y.-T., Wang, X., Jacko, M., Yesantharao, L. V., Wu, Q., & Zhang, C. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.21.554109 · Cited by 2

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl SyndromePreprint

McEntee, K. E., McCurdy, B. L., Larson, A. A., McCourt, E. A., Kaufman, M. L., Campbell, A. E., Pearson, C. G., Demarest, S., Taliaferro, J. M., Hesselberth, J. R., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.15.682674 · Cited by 2

Alternative splicing in breast cancer

Wen, X., Yan, Z., & Li, S. (2023) · Journal of Bio-X Research · doi:10.1097/jbr.0000000000000152 · Cited by 1

Antisense Molecules in Epilepsy—A Neuropharmacological Educational Review

Stephen, J. G., Stephen, J. G., Ali, M., Kumar, A., & Jose, S. (2022) · International Journal of Epilepsy · doi:10.1055/s-0044-1779694 · Cited by 1

Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy

Denomme, N., Hodges, S. L., Lopez‐Santiago, L. F., Yuan, Y., Ziobro, J. M., Minton, J., Chen, C., Chen, Y., Hull, J. M., Offord, J., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106990 · Cited by 1

Genetic epilepsies as a cause of seizures in Neonates

Numis, A. L., Cornet, M., & Glass, H. C. (2025) · Seminars in Perinatology · doi:10.1016/j.semperi.2025.152146 · Cited by 2

Dravet Syndrome: Past, Present, and Future

Liu, Y.-H., Kuo, C., Chou, I., Hsu, T., Lin, K., & Society for Neurological Rare Disorders-Taiwan (2025) · Acta Neurologica Taiwanica · doi:10.4103/ant.ant-d-25-00005 · Cited by 1

Applying Synthetic Nucleic Acid Therapeutics to Gene Activation for Haploinsufficient Diseases

Tse, V. C. K., & Corey, D. R. (2025) · Nucleic Acid Therapeutics · doi:10.1177/21593337251404407 · Cited by 2

Prevention of hydrocephalus with a small oligonucleotide

Antonyan, L., Bossini, L., Zhang, X., Ni, A., Hagel, M.-D., Baronchelli, E., Geusa, M., Peng, H., Semenak, A., Fleming, P., et al. (2026) · Molecular Therapy · doi:10.1016/j.ymthe.2026.01.034 · Cited by 1

Uncovering targets and molecular pathways for personalizing treatment in epilepsy

Rosa, F., & Lerche, H. (2026) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2026.2638746 · Cited by 1

Personalised therapies for children and adolescents with Dravet syndrome

Riva, A., & Striano, P. (2026) · The Lancet Neurology · doi:10.1016/s1474-4422(26)00128-6 · Cited by 1

Genetic medicines for epilepsy: unlocking new avenues for seizure control

Wee, I. C., Przybyla, M., Touma, J., Ittner, L. M., & van Eersel, J. (2026) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2026.1768550 · Cited by 1

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

Liu, J., Wu, X., Yin, T., Huang, F., Kong, M., Yang, Y., Liu, Z. H., Yu, J., & Zhang, T. (2026) · MedComm · doi:10.1002/mco2.70837 · Cited by 3

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices ( EILAT XVIII ). II . Treatments in more advanced clinical development

Bialer, M., Landmark, C. J., Koepp, M. J., Perucca, E., Perucca, P., Tomson, T., White, H. S., & Wirrell, E. C. (2026) · Epilepsia · doi:10.1002/epi.70346 · Cited by 1

Time Is Brain: The Importance of an Accurate SCN1A Prediction Score in the Era of Precision Medicine

Andrade, D. M. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221096017 · Cited by 1

How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives

Zielińska, A., Skarżyńska, U., Górka-Skoczylas, P., Mazurczak, T., Kuźniar-Pałka, A., Kanabus, K., Hoffman‐Zacharska, D., & Stawicka, E. (2024) · Biomedicines · doi:10.3390/biomedicines12061249 · Cited by 1

Inhalation of 5% CO2 and activation of ASIC1a: a potential therapeutic approach for Dravet syndrome

Lu, Q., Zhang, Q., Wang, Y., Wang, J., Zhao, H., Wang, Q., & Zou, L. (2025) · Acta Epileptologica · doi:10.1186/s42494-025-00204-8 · Cited by 1

The Floppy Infant

Dowling, J. J., & Cohn, R. D. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00159-1 · Cited by 1

Treatment strategies targeting specific genetic etiologies in epilepsy

Kim, H. J., & Kang, H. (2021) · Journal of genetic medicine · doi:10.5734/jgm.2021.18.1.8 · Cited by 1

The SCN1A Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathyPreprint

Clatot, J., Parthasarathy, S., Cohen, S. R., McKee, J. L., Massey, S. L., Somarowthu, A., Goldberg, E. M., & Helbig, I. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.29.498154 · Cited by 1

Testing of putative antiseizure drugs in a preclinical Dravet syndrome zebrafish modelPreprint

Whyte‐Fagundes, P., Vance, A., Carroll, A., Figueroa, F., Manukyan, C., & Baraban, S. C. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.11.566723 · Cited by 1

Parvalbumin Interneuron Impairment Leads to Synaptic Transmission Deficits and Seizures in SCN8A Epileptic EncephalopathyPreprint

Miralles, R. M., Boscia, A. R., Kittur, S., Vundela, S. R., Wengert, E. R., & Patel, M. K. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.09.579511 · Cited by 1

Base Editing Rescue of Seizures and SUDEP in SCN8A Developmental Epileptic EncephalopathyPreprint

Reever, C. M., Boscia, A. R., Deutsch, T. C. J., Patel, M. P., Miralles, R. M., Kittur, S., Fleischel, E. J., Buo, A. M., Yorek, M. S., Meisler, M. H., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.09.647983 · Cited by 1

Targeted gene therapy alleviates epilepsy and hyperexcitability in models of SCN2A deficiency

Zhang, Z., Zhang, J., Chen, X., Deming, B. A., Kant, S., Mandal, P., Kothandaraman, H., SanMiguel, P. J., Halurkar, M. S., Abeyaratna, A. D., et al. (2026) · Journal of Clinical Investigation · doi:10.1101/2025.06.03.657652 · Cited by 1

Epilepsy and Related Seizure Disorders

Tracz, J. A., & Musto, A. E. (2025) · doi:10.1002/9783527844678.ch4 · Cited by 1

Treating Dravet syndrome with TANGO

Crunkhorn, S. (2020) · Nature Reviews Drug Discovery · doi:10.1038/d41573-020-00153-6

Slower, Fewer Hippocampal Ripples in Loss-of-Function Model of Dravet Syndrome

Ahmed, O. J. (2020) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759720960470

Symphony Conductors Lose the Baton: Role of Fast-Spiking Interneurons in Orchestrating DS

Kadam, S. D. (2021) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597211003550

Precision medicine for epilepsies: are we there yet?

Andrade, D. M. (2021) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2021-326697

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense OligonucleotidesPreprint

Mittal, S., Tang, I., & Gleeson, J. G. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.04.474998

Exogenous Na V 1.1 activity in excitatory and inhibitory neurons reverts Dravet syndrome comorbidities when delivered post-symptom onset in mice with DravetPreprint

Fadila, S., Beucher, B., Dopeso‐Reyes, I. G., Mavashov, A., Brusel, M., Anderson, K., Goldberg, E. M., Ricobaraza, A., Hernández-Alcoceba, R., Kremer, E. J., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.10.495591

On the Right Trk: Towards an Effective Treatment for Dravet Syndrome

Wong, J. C. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221112794

One to Rule Them All: A Unique TAU Therapy for Neurodevelopmental Encephalopathies

Maffei, B., & Lignani, G. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221126332

Development and validation of an AI/ML platform for the discovery of splice-switching oligonucleotide targetsPreprint

Fronk, A. D., Manzanares, M. Á., Zheng, P., Geier, A., Anderson, K. L., Frederick, V., Smith, S. A., Gera, S., Munch, R., Are, M., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.14.512313

An Introduction to Minimally Invasive Pediatric Epilepsy Surgery

Riviello, J. J., Curry, D. J., & Weiner, H. L. (2022) · Journal of Pediatric Epilepsy · doi:10.1055/s-0042-1759876

Molecular Neurosurgery: Introduction to Gene Therapy and Clinical Applications

Addison, A. P., McGinnis, J. P., Ortiz‐Guzman, J., Tantry, E. K., Patel, D. M., Belfort, B. D. W., Srivastava, S., Romero, J. M., Arenkiel, B. R., & Curry, D. J. (2023) · Journal of Pediatric Epilepsy · doi:10.1055/s-0042-1760292

The Future of SCN1A Gene-targeting Research for the Treatment of Dravet Syndrome

Karda, R. (2023) · touchREVIEWS in Neurology · doi:10.17925/usn.2023.19.2.1

Potentiating Na V 1.1 in Dravet syndrome patient iPSC-derived GABAergic neurons increases neuronal firing frequency and decreases network synchronyPreprint

Kelley, M. R., Chipman, L. B., Asano, S. M., Knott, M., Howard, S., & Berg, A. P. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.28.559990

Revoking the Seize Order: Preventing Spontaneous Seizures With AAV in a CLN2 Mouse Model

Buchanan, G. F. (2023) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597231200702

Atenolol reduces cardiac-mediated mortality in genetic mouse model of sudden unexpected death in epilepsyPreprint

Soh, M. S., Kuanyshbek, A., Syazwan, E. S. M., Lee, H. M., McKenzie, C. E., Phillips, A. M., Hu, A., Scheffer, I. E., Semsarian, C., Berkovic, S. F., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.10.570964

Genes Encoding Ion Channels in Neurotherapeutics: Opportunities and Challenges

Akyüz, E., & Eyvazova, H. (2023) · Springer eBooks · doi:10.1007/978-981-99-6807-7_9

Treating Dravet syndrome with TANGO

Crunkhorn, S. (2020) · Nature Reviews Drug Discovery · doi:10.1038/d41573-020-00153-6

TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?

Wagnon, J. L. (2020) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759720975750 · Cited by 7

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Lenk, G. M., Jafar‐Nejad, P., Hill, S. F., Huffman, L. D., Smolen, C., Wagnon, J. L., Petit, H. J., Yu, W., Ziobro, J. M., Bhatia, K., et al. (2020) · Annals of Neurology · doi:10.1002/ana.25676 · Cited by 150

Antisense oligonucleotide hope for childhood epilepsies

Fyfe, I. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0319-5 · Cited by 5

Identification of new features and evaluation of antimir-based seizure therapies in the Scn1a(+/-)tm1Kea mouse model of Dravet syndrome

Gerbatin, R. R. (2023) · Figshare · doi:10.25419/rcsi.21551301