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

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The core Dravet syndrome phenotype

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Mortality in Dravet syndrome

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

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The genetics of Dravet syndrome

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Incidence of Dravet Syndrome in a US Population

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

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Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy

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Cannabinoids in treatment-resistant epilepsy: A review

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

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Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities

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Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

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CRISPR/dCas9 as a Therapeutic Approach for Neurodevelopmental Disorders: Innovations and Limitations Compared to Traditional Strategies

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State-of-the-art gene therapy in epilepsy

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Nucleic Acid–Based Therapeutics in Orphan Neurological Disorders: Recent Developments

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A critical evaluation of fenfluramine hydrochloride for the treatment of Dravet syndrome

Schoonjans, A., & Ceulemans, B. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1877540 · Cited by 21

Reprogramming RNA processing: an emerging therapeutic landscape

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Evaluating human mutation databases for “treatability” using patient-customized therapy

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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

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Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy

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Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies

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New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Nicole, S., & Lory, P. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.751095 · Cited by 19

Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome

Lersch, R., Jannadi, R., Grosse, L., Wagner, M., Schneider, M. F., von Stülpnagel, C., Heinen, F., Potschka, H., & Borggraefe, I. (2022) · The Neuroscientist · doi:10.1177/10738584221088244 · Cited by 20

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

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Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy

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The Heat Sensing Trpv1 Receptor Is Not a Viable Anticonvulsant Drug Target in the Scn1a+/− Mouse Model of Dravet Syndrome

Janve, V. S., Anderson, L. L., Bahceci, D., Hawkins, N. A., Kearney, J. A., & Arnold, J. C. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.675128 · Cited by 19

Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease

Titus, M. B., Chang, A. W., & Olesnicky, E. C. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.775395 · Cited by 18

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

Martínez‐Pizarro, A., Leal, F., Holm, L. L., Doktor, T. K., Petersen, U. S. S., Bueno, M. A., Thöny, B., Pérez, B., Andresen, B. S., & Desviat, L. R. (2022) · Nucleic Acid Therapeutics · doi:10.1089/nat.2021.0066 · Cited by 16

Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome

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Recent advances and current status of gene therapy for epilepsy

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New and emerging pharmacologic treatments for developmental and epileptic encephalopathies

Vasquez, A., Buraniqi, E., & Wirrell, E. C. (2022) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001029 · Cited by 16

RNA solutions to treat inborn errors of metabolism

Martínez‐Pizarro, A., & Desviat, L. R. (2022) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2022.07.006 · Cited by 15

Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)

Boßelmann, C. M., Borggräfe, I., Fazeli, W., Klein, K. M., Kluger, G. J., Müller‐Schlüter, K., Neubauer, B. A., von Spiczak, S., von Stülpnagel-Steinbeis, C., Weber, Y. G., et al. (2023) · Clinical Epileptology · doi:10.1007/s10309-023-00580-6 · Cited by 16

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

Petersen, U. S. S., Dembić, M., Martínez‐Pizarro, A., Richard, E., Holm, L. L., Havelund, J. F., Doktor, T. K., Larsen, M. R., Færgeman, N. J., Desviat, L. R., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.102101 · Cited by 16

Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework

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From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice

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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

Chopra, M., Modi, M. E., Dies, K. A., Chamberlin, N. L., Buttermore, E. D., Brewster, S. J., Prock, L. A., & Şahin, M. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.08.007 · Cited by 16

Role of Potassium Ion Channels in Epilepsy: Focus on Current Therapeutic Strategies

Khan, R., Chaturvedi, P., Sahu, P., Ludhiadch, A., Singh, P., Singh, G., & Munshi, A. (2022) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527322666221227112621 · Cited by 14

RNA therapeutics for epilepsy: An emerging modality for drug discovery

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Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder

Shomer, I., Mor, N., Raviv, S., Budick-Harmelin, N., Matchevich, T., Avkin-Nachum, S., Rais, Y., Haffner‐Krausz, R., Haimovich, A., Ziv, A., et al. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102432 · Cited by 18

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

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Dravet Syndrome as an Example of Precision Medicine in Epilepsy

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Current and promising therapeutic options for Dravet syndrome

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Nucleic acid delivery by ionizable nanocarriers for brain disease treatment

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Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome

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Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

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Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy

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Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function

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Novel treatments in epilepsy guided by genetic diagnosis

Marini, C., & Giardino, M. (2021) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.15139 · Cited by 12

Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

Megagiannis, P., Suresh, R., Rouleau, G. A., & Zhou, Y. (2022) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2022.114562 · Cited by 12

G-rich motifs within phosphorothioate-based antisense oligonucleotides (ASOs) drive activation of FXN expression through indirect effects

Wang, F., Calvo-Roitberg, E., Rembetsy-Brown, J. M., Fang, M., Sousa, J., Kartje, Z. J., Krishnamurthy, P. M., Lee, J., Green, M. R., Pai, A. A., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1108 · Cited by 12

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

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A novel rat model of Dravet syndrome recapitulates clinical hallmarks

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Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome

Miziak, B., & Czuczwar, S. J. (2020) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2021.1857722 · Cited by 12

Raising the bar: Fenfluramine sets new treatment standards for Dravet syndrome

Sullivan, J. E., & Cross, J. H. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108061 · Cited by 11

AAV-mediated interneuron-specific gene replacement for Dravet syndromePreprint

Mich, J. K., Ryu, J., Wei, A. D., Gore, B. B., Guo, R., Bard, A. M., Martinez, R. A., Bishaw, Y. M., Luber, E. M., Oliveira, L. M., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.15.571820 · Cited by 12

Therapeutic development approaches to treat haploinsufficiency diseases: restoring protein levels

Evans, E. F., Shyr, Z. A., Traynor, B. J., & Zheng, W. (2024) · Drug Discovery Today · doi:10.1016/j.drudis.2024.104201 · Cited by 13

uORF-targeting steric block antisense oligonucleotides do not reproducibly increase RNASEH1 expression

Ahlskog, N., Svrzikapa, N., Abuhamdah, R., Kye, M., Jad, Y. E., Feng, N., Hanson, B., Wood, M. J. A., & Roberts, T. C. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102406 · Cited by 11

Use of polyadenosine tail mimetics to enhance mRNA expression from genes associated with haploinsufficiency disorders

Torkzaban, B., Zhu, Y., Lopez, C., Alexander, J., Ma, J., Sun, Y., Maschhoff, K. R., Hu, W., Jacob, M. H., Lin, D., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102453 · Cited by 11

Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing

Syrbe, S. (2022) · Medizinische Genetik · doi:10.1515/medgen-2022-2145 · Cited by 12

KCNQ2- and KCNQ3-Associated Epilepsy

Weckhuysen, S., & George, A. L. (2022) · Cambridge University Press eBooks · doi:10.1017/9781009278270 · Cited by 12

Genetics in Epilepsy

Martinez, L. A., Lai, Y., Holder, J. L., & Anderson, A. E. (2021) · Neurologic Clinics · doi:10.1016/j.ncl.2021.05.005 · Cited by 14

Rational Small Molecule Treatment for Genetic Epilepsies

Goldberg, E. M. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01110-w · Cited by 12

Bioconjugates for improved delivery of oligonucleotide therapeutics to the central nervous system

Lee, H. J., Xie, Y., Greineder, C. F., & Tessier, P. M. (2026) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2026.115778 · Cited by 11

SCN1A as a therapeutic target for Dravet syndrome

Myers, K. A. (2023) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2023.2230364 · Cited by 11

Innovative drug discovery strategies in epilepsy: integrating next-generation syndrome-specific mouse models to address pharmacoresistance and epileptogenesis

Barker‐Haliski, M. L., & Hawkins, N. A. (2024) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2024.2384455 · Cited by 11

Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype

Nwosu, G., Reddy, S. B., Riordan, H., & Kang, J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23179683 · Cited by 10

Development and validation of AI/ML derived splice-switching oligonucleotides

Fronk, A. D., Manzanares, M. Á., Zheng, P., Geier, A., Anderson, K. L., Stanton, S., Zümrüt, H. E., Gera, S., Munch, R., Frederick, V., et al. (2024) · Molecular Systems Biology · doi:10.1038/s44320-024-00034-9 · Cited by 12

Splice-switching antisense oligonucleotides for pediatric neurological disorders

Zhang, X. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1412964 · Cited by 9

Novel antiseizure medications in the development pipeline: promising candidates and recent failures

Löscher, W. (2024) · Clinical Epileptology · doi:10.1007/s10309-024-00724-2 · Cited by 9

Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanismPreprint

Lin, S., Gade, A. R., Wang, H., Niemeyer, J. E., Galante, A., DiStefano, I. A., Towers, P., Nunez, J., Matsui, M., Schwartz, T. H., et al. (2024) · eLife · doi:10.7554/elife.98661.3 · Cited by 11

Integrating Machine Learning-Based Approaches into the Design of ASO Therapies

Leckie, J., & Yokota, T. (2025) · Genes · doi:10.3390/genes16020185 · Cited by 9

Rethinking RNA Modifications: Therapeutic Strategies for Targeting Dysregulated RNA

Bowles, I. E., & Orellana, E. A. (2025) · Journal of Molecular Biology · doi:10.1016/j.jmb.2025.169046 · Cited by 9

Metabolic aspects of genetic ion channel epilepsies

Neal, E. S., Xu, W., & Borges, K. (2023) · Journal of Neurochemistry · doi:10.1111/jnc.15938 · Cited by 9

Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Kioutchoukova, I. P., Foster, D. T., Thakkar, R. N., Foreman, M. A., Burgess, B. J., Toms, R., Valero, E., & Lucke-Wold, B. P. (2023) · World Journal of Experimental Medicine · doi:10.5493/wjem.v13.i4.59 · Cited by 11

Neonatal but not juvenile gene therapy reduces seizures and prolongs lifespan in SCN1B–Dravet syndrome mice

Chen, C., Yuan, Y., O’Malley, H. A., Duba-Kiss, R., Chen, Y., Habig, K., Niibori, Y., Hodges, S. L., Hampson, D. R., & Isom, L. L. (2025) · Journal of Clinical Investigation · doi:10.1172/jci182584 · Cited by 9

Home-cage behavior in the Stargazer mutant mouse

Schirmer, C., Abboud, M. A., Lee, S., Bass, J. S., Mazumder, A. G., Kamen, J. L., & Krishnan, V. (2022) · Scientific Reports · doi:10.1038/s41598-022-17015-3 · Cited by 10

Precision medicine for sodium channelopathy-related autism and epilepsy

Robinson, M. J., Wettschurack, K. W., Halurkar, M. S., Chen, X., Zhang, Z., Zhang, J., & Yang, Y. (2025) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2025.09.007 · Cited by 10

Genetics of Dravet Syndrome and its Targeted Therapy by Nanomedicine: A Roadmap for Future Treatment of Drug Resistant Seizures

Ikram, M. D., & Rasheed, S. (2022) · Current Molecular Pharmacology · doi:10.2174/1874467215666220819143105 · Cited by 8

Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions

Brunklaus, A., George, A. L., Lal, D., Heinzen, E. L., & Goldman, A. M. (2023) · Epilepsia · doi:10.1111/epi.17743 · Cited by 8

RNA structure in alternative splicing regulation: from mechanism to therapy

Bao, N., Wang, Z., Fu, J., Dong, H., & Jin, Y. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024119 · Cited by 9

Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome

Shao, W., Liu, L., Gu, J., Yang, Y., Wu, Y., Zhang, Z., Xu, Q. Y., Wang, Y., Shen, Y. L., Gu, L., et al. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03304-8 · Cited by 10

Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol

Xu, C., Zhang, Y., Gozal, D., & Carney, P. R. (2021) · Journal of Central Nervous System Disease · doi:10.1177/11795735211048045 · Cited by 8

Epilepsy Genetics: Advancements in the Field and Impact on Clinical Practice

Hunter, S. E., Jalazo, E., Felton, T., Heinzen, E. L., & Shiloh‐Malawsky, Y. (2022) · Epilepsy · doi:10.36255/exon-publications-epilepsy-genetics · Cited by 8

Dravet syndrome—toward an optimal and disease-specific treatment

Schoonjans, A., & Ceulemans, B. (2021) · Clinical Epileptology · doi:10.1007/s10309-021-00399-z · Cited by 9

Therapeutic targeting of RNA for neurological and neuromuscular diseasePreprint

Bubenik, J. L., Scotti, M. M., & Swanson, M. S. (2024) · Genes & Development · doi:10.1101/gad.351612.124 · Cited by 8

To splice or not to splice: pseudoexons in neurological disease and opportunities for intervention

Fletcher, S., Keegan, N., Mejzini, R., & Pitout, I. L. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102343 · Cited by 7

Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy

Schneider, M. F., Vogt, M. A., Scheuermann, J. C., Müller, V., Fischer-Hentrich, A. H. L., Kremer, T., Lugert, S., Metzger, F., Kudernatsch, M., Kluger, G. J., et al. (2024) · Translational Neuroscience · doi:10.1515/tnsci-2022-0330 · Cited by 7

Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies

Shabani, K., Krupp, J., Lemesre, E., Lévy, N., & Tran, H. (2024) · Cells · doi:10.3390/cells13211763 · Cited by 8

The dose makes the poison—Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing

Helbig, I., & Goldberg, E. M. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009214 · Cited by 7

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

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Precision Therapy in KCNQ2-Related Epilepsy

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