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SCN1A‐related phenotypes: Epilepsy and beyond
Open accessAbstract
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). SCN1A disorders also result in other diseases such as hemiplegic migraine and autism spectrum disorder (ASD). Dravet syndrome (DS) is the prototypic DEE with an early onset of febrile status epilepticus, hemiclonic or generalized tonic‐clonic seizures, and later onset of additional seizure types. Electroencephalography (EEG) and magnetic resonance imaging (MRI) are normal at onset. Development is normal in the first year of life but plateaus rapidly, with most patients ultimately having intellectual disability. Epilepsy is drug‐resistant and necessitates polytherapy. Most pathogenic variants occur de novo in the affected child, but they are inherited from mosaic affected or unaffected parents in rare cases. The molecular finding of haploinsufficiency is consistent with a loss‐of‐function defect in cells and animal models. Although seizures are the most commonly reported symptom in DS, many additional issues critically affect patients’ cognitive and behavioral functioning. Hemiplegic migraine (HM) is a rare form of migraine with aura, characterized by the emergence of hemiparesis as part of the aura phase. All SCN1A mutations reported in sporadic/familial HM3 are missense mutations. Most of the experimental results show that they cause a gain of function of Na V 1.1 as opposed to the loss of function of the epileptogenic Na V 1.1 mutations. SCN1A and SCN2A pathogenic variants have been identified in genetic studies of cohorts of patients with ASD. In addition, ASD features are often reported in patients with Dravet syndrome and other DEEs.
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“SCN1A again provides a good example with Dravet syndrome arising due to LOF pathogenic variants 169 , and GOF pathogenic variants causing a profound Early Infantile DEE with an expanded phenotypic spectrum 32,33 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [169]
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“Its pathogenic variants cause a wide range of phenotypes, ranging from the mildest simple febrile seizures (FS) to severe myoclonic epilepsy in infancy (SMEI), or early onset developmental and epileptic encephalopathies (Scheffer and Nabbout, 2019).”
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“SCN1A encodes the alpha1 subunit of the sodium channel and its mutation results in a broad spectrum of clinical phenotypes (Connolly 2016; Scheffer and Nabbout 2019).”
BackgroundAutism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications
Giliberti, A., Frisina, A. M., Giustiniano, S., Carbonaro, Y., Roccella, M., & Nardello, R. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14072431 · Cited by 18
Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations
Chi, W., & Kiskinis, E. (2024) · Scientific Reports · doi:10.1038/s41598-024-53494-2 · Cited by 15
Nelson, K., Chakravarti, V., Diskin, C., Thomson, J. E., Cohen, E., Mahant, S., Feudtner, C., Widger, K. A., Pullenayegum, E., Berry, J. G., et al. (2021) · Academic Pediatrics · doi:10.1016/j.acap.2021.07.014 · Cited by 14
Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
Hill, S. F., Jafar‐Nejad, P., Rigo, F., & Meisler, M. H. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1282201 · Cited by 14
“The typical disease course begins with onset of seizures during the first year of life, followed by developmental delay, movement disorders, intellectual disability, sleep disturbances, and feeding difficulties (Scheffer and Nabbout, 2019; Meisler et al., 2021; Johannesen et al., 2022).”
BackgroundClassification of Current Experimental Models of Epilepsy
Rubio, C., Parra, H. R., López-Landa, A., & Rubio‐Osornio, M. (2024) · Brain Sciences · doi:10.3390/brainsci14101024 · Cited by 14
“This mutation reduces the function of inhibitory neurons (interneurons), leading to hyperex-citability and a lowered seizure threshold [91].”
Howell, K. B., White, S. M., McTague, A., D’Gama, A. M., Costain, G., Poduri, A., Scheffer, I. E., Chau, V., Smith, L., Stephenson, S. E. M., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00474-8 · Cited by 14
“This gene is associated with both gain-and loss-of-function disease mechanisms, and phenotypes of variable severity, only some of which are associated with poor outcomes 63,154,155 .”
Self-citationChancey, J. H., & Howard, M. A. (2022) · eNeuro · doi:10.1523/eneuro.0080-22.2022 · Cited by 14
“Gain of function mutations of SCN1A are associated with migraine (Dichgans et al., 2005), while loss of function mutations are associated with a broad range of epilepsy syndromes, ranging from the more mild GEFS1 to severe epileptic encephalopathies, including DS (Scheffer and Nabbout, 2019).”
BackgroundDravet Syndrome as an Example of Precision Medicine in Epilepsy
Sullivan, J. E., & Wirrell, E. C. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221106281 · Cited by 15
“Other significant comorbidities emerge with time including crouch gait, parkinsonian features, autistic features, attention deficit disorder, growth delay and feeding problems, dysautonomia and sleep problems.(2) The risk of sudden unexpected death in epilepsy (SUDEP) is significantly increased with a reported rate of…”
BackgroundGastrointestinal and eating problems in SCN1A-related seizure disorders
Minderhoud, C. A., Postma, A., Jansen, F. E., Verhoeven, J. S., Schrijver, J. J., Goudswaard, J., Andreae, G., Otte, W. M., Braun, K. P. J., & Brilstra, E. H. (2023) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109361 · Cited by 14
Testing of putative antiseizure medications in a preclinical Dravet syndrome zebrafish model
Whyte‐Fagundes, P., Vance, A., Carroll, A., Figueroa, F., Manukyan, C., & Baraban, S. C. (2024) · Brain Communications · doi:10.1093/braincomms/fcae135 · Cited by 13
Ionic Channels as Potential Targets for the Treatment of Autism Spectrum Disorder: A Review
da Silva, B. A., da Silva, P. R., Gonzaga, T. K. S. D. N., & Maia, R. E. (2021) · Current Neuropharmacology · doi:10.2174/1570159x19666210809102547 · Cited by 13
“SCN1A Sodium voltage-gated channel, alpha subunit 1 Expressed in brain and muscles; involved in generation/propagation of action potentials Developmental and epileptic encephalopathy 6B, nonDravet (MIM: 619317); Dravet syndrome (MIM: 607208); Epilepsy, generalized, with febrile seizures plus, type 2 (MIM: 604403); Feb…”
A review of the pharmacotherapeutic considerations for managing epilepsy in people with autism
Watkins, L. V., O’Dwyer, M., & Shankar, R. (2022) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2022.2055461 · Cited by 13
“likely plays a role in GABA-A receptor function [72].”
BackgroundShen, X., Chen, X., Lu, J., Chen, Q., Li, W., Zhu, J., He, Y., Guo, H., Xu, C., & Fan, X. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.1037239 · Cited by 12
“The SCN1A gene encodes the alpha 1 subunit of the voltagegated Na+ channel and plays a crucial role in the pathogenesis of several epilepsy syndromes (Scheffer and Nabbout, 2019).”
BackgroundQin, H., Wei, A., Wang, Y., Wang, L., Xu, H., Yan, Z., Tian, X., Zheng, Y., Gao, Z., & Hu, Y. (2023) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2023.115371 · Cited by 12
Jansson, J. S., Bjurulf, B., Dellenmark‐Blom, M., Hallböök, T., & Reilly, C. J. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2023.109603 · Cited by 13
Zhao, B., Liao, S., Zhong, X., Luo, Y., Hong, S., Cheng, M., Zhang, J., Li, T., & Jiang, L. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.909191 · Cited by 12
Identification of five novel SCN1A variants
Zeng, B., Zhang, H., Lu, Q., Fu, Q., Yang, Y. X., Wan, L., Ma, P., Feng, C., Qin, J., Luo, L., et al. (2023) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2023.1272748 · Cited by 12
Fang, Z., Xie, L., Yan, L., Lin, H., Pan, Y., Liu, B., Jiang, Y., Cheng, M., Li, X., & Jiang, L. (2021) · Epilepsy Research · doi:10.1016/j.eplepsyres.2021.106669 · Cited by 12
Villar‐Martínez, M. D., Moreno‐Ajona, D., & Goadsby, P. J. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-90820-7.00007-0 · Cited by 11
Gao, L., Shi, L., & Liu, Q. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108961 · Cited by 11
Dravet Syndrome—The Polish Family’s Perspective Study
Paprocka, J., Lewandowska, A. U., Zieliński, P., Kurczab, B., Emich‐Widera, E., & Mazurczak, T. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10091903 · Cited by 11
Takahashi, Y. K., Tabata, K., Baba, S., Takeshita, E., Sumitomo, N., Shimizu‐Motohashi, Y., SAITO, T. K., Nakagawa, E., Ishii, A., Hirose, S., et al. (2025) · Epilepsia Open · doi:10.1002/epi4.70080 · Cited by 10
Robea, M. A., Ilie, O., Nicoară, M., Solcan, G., Romila, L. E., Ureche, D., & Ciobica, A. S. (2024) · Animals · doi:10.3390/ani14030405 · Cited by 10
“Although its etiology is not fully understood, ASD may be seen from a complex perspective that combines genetic and environmental components [17,24–26].”
BackgroundSCN1A-related epilepsy with recessive inheritance: Two further families
Moretti, R., Arnaud, L., Bouteiller, D., Trouillard, O., Moreau, P., Buratti, J., Rastetter, A., Keren, B., Portes, V. D., Toulouse, J., et al. (2021) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2021.05.018 · Cited by 10
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
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
Zou, H., Zhang, Q., Liao, J., Zou, D., Hu, Z., Li, B., Chen, L., Wen, J., Zhao, X., Zhang, V. W., et al. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2024.1496411 · Cited by 9
Suleimanova, A., Talanov, M. O., van den Maagdenberg, A. M. J. M., & Giniatullin, R. A. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.644047 · Cited by 9
“…is also of relevance to various neurological disorders other than migraine, foremost childhood epilepsy (Menezes et al., 2020), autism spectrum disorder (Scheffer and Nabbout, 2019), Alzheimer’s disease (Sakkaki et al., 2020), and perhaps less known, transient cerebral ischemia (Zhan et al., 2007).”
BackgroundCheah, C. S., Beckman, M., Catterall, W. A., & Oakley, J. C. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.751762 · Cited by 7
“1, are associated with a family of epilepsies in which febrile seizures are the minimum epileptic phenotype (Catterall et al., 2010; Scheffer and Nabbout, 2019).”
BackgroundCase series of early SCN1A-related developmental and epileptic encephalopathies
Gowda, V., Amoghimath, R., Battina, M., Shivappa, S. K., & Benakappa, N. (2021) · Journal of Pediatric Neurosciences · doi:10.4103/jpn.jpn_99_20 · Cited by 9
Fang, Z., Xie, L., Li, X., Gui, J., Yang, X., Han, Z., Luo, H., Huang, D., Chen, H., Li, C., et al. (2022) · Seizure · doi:10.1016/j.seizure.2022.07.018 · Cited by 9
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
Langhammer, F., Gregor, A., Ntamati, N. R., Ekici, A. B., Winner, B., Nevian, T., & Zweier, C. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddae183 · Cited by 8
“This would be compatible with the observation that both loss-of-function and gain-of-function variants in SCN1A or other sodium channels result in seizure phenotypes [29, 31, 34].”
Postma, A., Minderhoud, C. A., Otte, W. M., Jansen, F. E., Gunning, W. B., Verhoeven, J. S., Jongmans, M. J., Zinkstok, J., & Brilstra, E. H. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.109726 · Cited by 8
“A pathogenic variant in SCN1A can result in a spectrum of phenotypes, including, Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS + ) spectrum phenotype (including febrile seizures) [2 – 3].”
Hernández, A. V. M., Vila, M. T., Caro‐Llopis, A., Monfort, S., & Martı́nez, F. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.784892 · Cited by 8
Aledo‐Serrano, Á., Sánchez-Alcudia, R., Toledano, R., García‐Morales, I., Beltrán‐Corbellini, Á., del Pino, I., & Gil‐Nagel, A. (2021) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2021.40 · Cited by 8
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes
Ma, R., Duan, Y., Zhang, L., Qi, X., Zhang, L., Pan, S., Gao, L., Wang, C., & Wang, Y. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.826183 · Cited by 10
“More than 80% of patients with DS have pathogenic variants (or mutations) in SCN1A (Scheffer and Nabbout, 2019).”
BackgroundGenetic convergence of developmental and epileptic encephalopathies and intellectual disability
Carvill, G. L., Jansen, S., LaCroix, A. J., Zemel, M., Mehaffey, M. G., de Vries, P., Brunner, H. G., Scheffer, I. E., Vries, B. B. A. D., Vissers, L. E. L. M., et al. (2021) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14989 · Cited by 8
“Although we have a limited history, the features are highly suggestive of Dravet syndrome.(12) In cohort studies of patients with epilepsy, SCN1A is the most frequently implicated gene, accounting for 3% to 18% of cases.”
Self-citation
Metadata
- Authors
- Scheffer, I. E., & Nabbout, R.
- Affiliations
- Royal Children's Hospital (AU)
- Hôpital Necker-Enfants Malades (FR)
- Corresponding author
- Nabbout, Rima
- Venue
- Epilepsia
- Publisher
- Wiley
- Published
- 2019-12
- Volume
- 60
- Issue
- S3
- Pages
- S17-S24
- ISSN
- 0013-9580 (ISSN-L)
- 1528-1167
- OpenAlex
- W3000653518
- Cited by
- 245
- References
- 66
- Citations by year
- 2026: 20 · 2025: 42 · 2024: 49 · 2023: 39 · 2022: 43 · 2021: 43 · 2020: 9
- FWCI
- 3.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Epilepsia (publishedVersion)
- PubMed (publishedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Keywords
- SCN1A, Nav1.1 sodium channel, Dravet syndrome, developmental and epileptic encephalopathy, genetic epilepsy with febrile seizures plus, hemiplegic migraine, autism spectrum disorder, haploinsufficiency, loss-of-function mutations, gain-of-function mutations, drug-resistant epilepsy, intellectual disability, phenotypic spectrum, de novo mutations, SCN2A
- MeSH terms
- Autism Spectrum Disorder, Epileptic Syndromes, Animals, Seizures, Febrile, Epilepsy, Epilepsies, Myoclonic, Humans, Mutation, NAV1.1 Voltage-Gated Sodium Channel
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