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 provides an example with Dravet syndrome arising due to LOF pathogenic variants, and GOF pathogenic variants causing a profound Early Infantile DEE with an expanded phenotypic spectrum.
“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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“A family history of febrile seizures or other epilepsies may be seen in 30-50% of the cases, and may suggest the familial syndrome of genetic epilepsy with febrile seizures plus (GEFS+), another syndrome associated with variants in SCN1A (16).”
The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention
Costagliola, G., Orsini, A. A., Coll, M., Brugada, R., Parisi, P., & Striano, P. (2021) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51382 · Cited by 93 · see citing works
The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review
Sullivan, J. E., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B. S., Gofshteyn, J. S., James, E. S., Rico, S., & Zuberi, S. M. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108661 · Cited by 76 · see citing works
A systematic review of adults with Dravet syndrome
Selvarajah, A., Ali, Q. Z., Marques, P., Rong, M., & Andrade, D. M. (2021) · Seizure · doi:10.1016/j.seizure.2021.02.025 · Cited by 76 · see citing works
Intellectual functioning and behavior in Dravet syndrome: A systematic review
Jansson, J. S., Hallböök, T., & Reilly, C. J. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107079 · Cited by 72 · see citing works
Epilepsy and Cognitive Impairment in Childhood and Adolescence: A Mini-Review
Operto, F. F., Pastorino, G. M. G., Viggiano, A., Dell’Isola, G. B., Dini, G., Verrotti, A., & Coppola, G. (2022) · Current Neuropharmacology · doi:10.2174/1570159x20666220706102708 · Cited by 70 · see citing works
“A gene mutation ( e.g ., SCN1A) can be expressed in a broad spectrum of clinical phenotypes [85] and vice versa; the same clinical condition can be caused by different genetic mechanisms.”
BackgroundVoltage-Gated Sodium Channel Dysfunctions in Neurological Disorders
Barbieri, R., Nizzari, M., Zanardi, I., Pusch, M., & Gavazzo, P. (2023) · Life · doi:10.3390/life13051191 · Cited by 65 · see citing works
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain · doi:10.1093/brain/awad111 · Cited by 62 · see citing works
“do not obviously fit these categories but may share some core features, such as fever-provoked seizures.(5) Further, people with pathogenic var-”
BackgroundSelf-citationCRISPR-Cas9-Mediated Gene Therapy in Neurological Disorders
Guan, L., Han, Y., Yang, C., Lu, S., Du, J., Li, H., & Lin, J. (2021) · Molecular Neurobiology · doi:10.1007/s12035-021-02638-w · Cited by 58 · see citing works
Selected Biomarkers of Oxidative Stress and Energy Metabolism Disorders in Neurological Diseases
Korczowska-Łącka, I., Hurła, M., Banaszek, N., Kobylarek, D., Szymanowicz, O., Kozubski, W., & Dorszewska, J. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03329-4 · Cited by 55 · see citing works
Dravet syndrome: Advances in etiology, clinical presentation, and treatment
He, Z., Li, Y., Zhao, X., & Li, B. (2022) · Epilepsy Research · doi:10.1016/j.eplepsyres.2022.107041 · Cited by 57 · see citing works
Improving epilepsy diagnosis across the lifespan: approaches and innovations
Pellinen, J., Foster, E., Wilmshurst, J. M., Zuberi, S. M., & French, J. A. (2024) · The Lancet Neurology · doi:10.1016/s1474-4422(24)00079-6 · Cited by 52 · see citing works
Lagae, L. G. (2020) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000902 · Cited by 52 · see citing works
Use of Zebrafish Models to Boost Research in Rare Genetic Diseases
Crouzier, L., Richard, É. M., Sourbron, J., Lagae, L. G., Maurice, T., & Delprat, B. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413356 · Cited by 51 · see citing works
Specchio, N., Micco, V. D., Trivisano, M., Ferretti, A., & Curatolo, P. (2021) · Epilepsia · doi:10.1111/epi.17115 · Cited by 45 · see citing works
Beltrán‐Corbellini, Á., Aledo‐Serrano, Á., Møller, R. S., Pérez‐Palma, E., García‐Morales, I., Toledano, R., & Gil‐Nagel, A. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.777115 · Cited by 44 · see citing works
“The opposite could also be applied, different electroclinical syndromes could be caused by the same genetic alteration in two different individuals (phenotypical heterogeneity) (43).”
SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy
Clatot, J., Parthasarathy, S., Cohen, S. R., McKee, J. L., Massey, S. L., Somarowthu, A., Goldberg, E. M., & Helbig, I. (2022) · Epilepsia · doi:10.1111/epi.17444 · Cited by 41 · see citing works
Neurological Disorders and Risk of Arrhythmia
Bernardi, J., Aromolaran, K. A., & Aromolaran, A. S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms22010188 · Cited by 40 · see citing works
“Deletion in neuronal specific SCN2A and SCN3A genes have been associated with autism [104] and different forms of epilepsy [105], while loss-offunction mutations in the SCN1A gene are responsible for the comorbidity of psychiatric disorders with epilepsy [106], suggesting that Na channels may be functionally important…”
BackgroundVoltage‐gated sodium channels in genetic epilepsy: up and down of excitability
Rusina, E., Simonti, M., Duprat, F., Cestèle, S., & Mantegazza, M. (2023) · Journal of Neurochemistry · doi:10.1111/jnc.15947 · Cited by 36 · see citing works
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
Gallagher, D., Pérez‐Palma, E., Brünger, T., Ghanty, I., Brilstra, E. H., Ceulemans, B., Chémaly, N., Lange, I., Depienne, C., Guerrini, R., et al. (2024) · Epilepsia · doi:10.1111/epi.17882 · Cited by 39 · see citing works
“40,41 For the subcohort of individuals where we had access to initial seizure type data, approximately one third of DS patients presented with status epilepticus compared with only 5% of GEFS + patients.”
Self-citationCarvill, G. L., Matheny, T., Hesselberth, J. R., & Demarest, S. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01137-z · Cited by 39 · see citing works
Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy
Agbo, J., Ibrahim, Z. G., Magaji, S. Y., Mutalub, Y. B., Mshelia, P. P., & Mhya, D. H. (2023) · Acta Epileptologica · doi:10.1186/s42494-023-00127-2 · Cited by 37 · see citing works
Bruxel, E. M., Bruno, D. D. C. F., do Canto, A. M., Geraldis, J. C., Godoi, A. B., Martin, M., & Lopes‐Cendes, Í. (2021) · Seizure · doi:10.1016/j.seizure.2021.03.002 · Cited by 36 · see citing works
Dravet Syndrome: Novel Approaches for the Most Common Genetic Epilepsy
Isom, L. L., & Knupp, K. G. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01095-6 · Cited by 37 · see citing works
“Most pathogenic variants occur de novo, with less than 10% inherited [33].”
BackgroundMatricardi, S., Cestèle, S., Trivisano, M., Kassabian, B., Leroudier, N., Vittorini, R., Nosadini, M., Cesaroni, E., Siliquini, S., Marinaccio, C., et al. (2023) · Epilepsia · doi:10.1111/epi.17509 · Cited by 35 · see citing works
Autism and Migraine: An Unexplored Association?
Vetri, L. (2020) · Brain Sciences · doi:10.3390/brainsci10090615 · Cited by 35 · see citing works
Impact of COVID-19 pandemic on pediatric patients with epilepsy – The caregiver perspective
Trivisano, M., Specchio, N., Pietrafusa, N., Calabrese, C., Ferretti, A., Ricci, R., Renzetti, T., Raponi, M., & Vigevano, F. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107527 · Cited by 35 · see citing works
“Viral infection is a risk factor for seizures in children with certain DEEs with fever sensitivity, such as Dravet Syndrome and SCN1A-related phenotypes [7].”
BackgroundSCN1A channelopathies: Navigating from genotype to neural circuit dysfunction
Bryson, A., & Petrou, S. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1173460 · Cited by 35 · see citing works
Boscia, F., Elkjaer, M. L., Illés, Z., & Kukley, M. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.685703 · Cited by 33 · see citing works
“1 channels result in various types of epilepsy and reduced volume of brain GM and WM (Lee et al., 2017; Scheffer and Nabbout, 2019).”
BackgroundInvestigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster
Takai, A., Yamaguchi, M., Yoshida, H., & Chiyonobu, T. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176442 · Cited by 33 · see citing works
Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome
Brambilla, I., Aibar, J. Á., Hallet, A., Bibic, I., Cardenal‐Muñoz, E., Prpić, I., Darra, F., Specchio, N., & Nabbout, R. (2021) · Epilepsia Open · doi:10.1002/epi4.12464 · Cited by 31 · see citing works
Self-citationNon‐coding regulatory elements: Potential roles in disease and the case of epilepsy
Pagni, S., Mills, J. D., Frankish, A., Mudge, J. M., & Sisodiya, S. M. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12775 · Cited by 32 · see citing works
Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes
Peall, K. J., Owen, M. J., & Hall, J. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00896-x · Cited by 32 · see citing works
“Variants in SCN1A , which encodes the ɑ 1 subunit of voltage-gated sodium channels, are associated with a spectrum of epilepsy syndromes, ranging from genetic epilepsy with febrile seizures to treatment-resistant epileptic encephalopathies, the most common of which is Dravet syndrome 15 .”
Teunissen, M. W. A., Lewerissa, E., van Hugte, E., Wang, S., Ockeloen, C. W., Koolen, D. A., Pfundt, R., Marcelis, C., Brilstra, E. H., Howe, J., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad081 · Cited by 28 · see citing works
Specchio, N., Micco, V. D., Aronica, E., Auvin, S., Balestrini, S., Brunklaus, A., Gardella, E., Scheper, M., Taglialatela, M., Trivisano, M., et al. (2025) · Epilepsia · doi:10.1111/epi.18209 · Cited by 31 · see citing works
Structure and Function of Sodium Channel Nav1.3 in Neurological Disorders
Liao, S., Liu, T., Yang, R., Tan, W., Gu, J., & Deng, M. (2022) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-022-01211-w · Cited by 27 · see citing works
“1 are involved in generalized epilepsy and febrile seizures (Scheffer and Nabbout 2019).”
BackgroundChallal, S., Skiba, A., Langlois, M., Esguerra, C. V., Wolfender, J., Crawford, A. D., & Skalicka‐Woźniak, K. (2023) · Journal of Ethnopharmacology · doi:10.1016/j.jep.2023.116740 · Cited by 27 · see citing works
Chakraborty, S., Parayil, R., Mishra, S., Nongthomba, U., & Clement, J. P. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810807 · Cited by 25 · see citing works
Preliminary Results Regarding Sleep in a Zebrafish Model of Autism Spectrum Disorder
Robea, M. A., Ciobica, A. S., Curpăn, A.-Ș., Plavan, G. I., Strungaru, Ș.-A., Lefter, R. M., & Nicoară, M. (2021) · Brain Sciences · doi:10.3390/brainsci11050556 · Cited by 25 · see citing works
Genetics and gene therapy in Dravet syndrome
Higurashi, N., Broccoli, V., & Hirose, S. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108043 · Cited by 25 · see citing works
Gruenbaum, B., Schonwald, A., Boyko, M., & Zlotnik, A. (2024) · Cells · doi:10.3390/cells13141228 · Cited by 27 · see citing works
“In terms of seizure susceptibility, genetic variations in ion channel genes, such as SCN1A, which encodes the alpha subunit of the voltage-gated sodium channel, have been linked to various forms of epilepsy [62,63].”
BackgroundGonçalves, C., Martins, S. P. V., & Fernandes, L. P. N. S. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108206 · Cited by 24 · see citing works
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
Woodbury‐Smith, M., Lamoureux, S., Begum, G., Nassir, N., Akter, H., O’Rielly, D. D., Rahman, P., Wintle, R. F., Scherer, S. W., & Uddin, M. J. (2022) · Genes · doi:10.3390/genes13020207 · Cited by 24 · see citing works
“In Genes 2022, 13, 207 7 of 10 another subject, a predicted damaging mutation in SCN1A was identified.”
BackgroundInfluentialShokr, M. M., Eladawy, R. M., Azar, Y. O., & Raish, S. M. A. (2025) · Foods · doi:10.3390/foods14172926 · Cited by 23 · see citing works
“GABAergic interneuron impairment [169,170] Limited to SCN1A genetic epilepsy, correlational, and specific mechanisms.”
Adenosine-A2A Receptor Signaling Plays a Crucial Role in Sudden Unexpected Death in Epilepsy
Shen, H., Baer, S. B., Gesese, R., Cook, J. M., Weltha, L., Coffman, S. Q., Wu, J., Chen, J., Gao, M., & Ji, T. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.910535 · Cited by 23 · see citing works
“These include rodents with mutations in the SCN1A gene (mimics Dravet syndrome) (Scheffer and Nabbout, 2019), SCN5A gene (mimics Brugada syndrome), KCNH2, KCNQ1 genes (mimics Long QT syndrome), etc. (Tu et al., 2011).”
BackgroundGene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?
Carpenter, J. C., & Lignani, G. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01081-y · Cited by 22 · see citing works
“The majority of diagnoses feature rare, highly deleterious variants concentrated in a small number of recurrently implicated genes (i.e. PRRT2, SCN1A, KCNQ2, CDKL5, SCN2A, STXBP1, SLC2A1, and PCDH19), with the 10 most represented genes accounting for ~ 80% of cases of monogenic epilepsy [8, 9].”
BackgroundInfluentialFan, H., Yang, M., Lin, L., Chiang, K.-L., & Chen, C. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms25010031 · Cited by 26 · see citing works
“[ in patients with DS are substantially higher than the general population [75].”
BackgroundScalise, S., Zannino, C., Lucchino, V., Conte, M. L., Scaramuzzino, L., Cifelli, P., D’Andrea, T., Martinello, K., Fucile, S., Palma, E., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10051075 · Cited by 22 · see citing works
Cavirani, B., Spagnoli, C., Caraffi, S. G., Cavalli, A., Cesaroni, C. A., Cutillo, G., GIORGIS, V. D., Frattini, D., Marchetti, G. B., Masnada, S., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25021248 · Cited by 21 · see citing works
Nucleic Acid–Based Therapeutics in Orphan Neurological Disorders: Recent Developments
Khorkova, O., Hsiao, J. H., & Wahlestedt, C. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.643681 · Cited by 21 · see citing works
“The resulting excitation/inhibition imbalance leads to network hyperexcitation and epileptic seizures, as well as other manifestations of DS (Scheffer and Nabbout, 2019).”
BackgroundChemaly, N., Kuchenbuch, M., Teng, T., Marie, E., D'Onofrio, G., Lo Barco, T., Brambilla, I., Flege, S., Hallet, A., & Nabbout, R. (2024) · Epilepsia Open · doi:10.1002/epi4.12557 · Cited by 20 · see citing works
“12 These results are correlated with the three phases of natural history of individuals with DS. 9 In the first two phases, seizures are at the forefront.”
BackgroundResultInfluentialSelf-citationGorman, K. M., Peters, C. H., Lynch, B., Jones, L., Bassett, D. S., King, M. D., Ruben, P. C., & Rosch, R. E. (2021) · Brain Communications · doi:10.1093/braincomms/fcab235 · Cited by 20 · see citing works
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases
Chen, C., Fang, F., Wang, X., Lv, J., Wang, X., & Jin, H. G. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.821012 · Cited by 20 · see citing works
“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).”
BackgroundNovel Therapeutics for Neonatal Seizures
Ziobro, J. M., Eschbach, K. L., & Shellhaas, R. A. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01085-8 · Cited by 19 · see citing works
“However, SCN1A is rarely implicated in epilepsy of infancy with migrating focal seizures (EIMFS) and early onset SCN1ADEE with seizure onset in the neonatal period [162].”
BackgroundDeciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing
Sparber, P. A., Sharova, M., Davydenko, K., Pyankov, D., Filatova, A. Y., & Skoblov, M. Y. (2023) · Brain · doi:10.1093/brain/awad383 · Cited by 19 · see citing works
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes
Ding, J., Wang, L., Jin, Z., Qiang, Y., Li, W., Wang, Y., Zhu, C., Jiang, S., Xiao, L., Hao, X., et al. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.832380 · Cited by 20 · see citing works
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 19 · see citing works
“Migraine attacks usually comprise aura (i.e., unilateral sensory loss) and further focal neurological signs such as hemiplegia, aphasia, and visual disturbances (Dichgans and others 2005; Scheffer and Nabbout 2019).”
BackgroundCaring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers
Domaradzki, J., & Walkowiak, D. (2023) · Children · doi:10.3390/children10081410 · Cited by 18 · see citing works
Improving Therapy of Pharmacoresistant Epilepsies: The Role of Fenfluramine
Dini, G., Tulli, E., Dell’Isola, G. B., Mencaroni, E., Cara, G. D., Striano, P., & Verrottı, A. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.832929 · Cited by 19 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
“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 · see citing works
“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 14 · see citing works
“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 13 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Gao, L., Shi, L., & Liu, Q. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108961 · Cited by 11 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism
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. (2025) · eLife · doi:10.7554/elife.98661.3 · Cited by 9 · see citing works
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 · see citing works
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 · see citing works
“…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 9 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
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 · see citing works
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 8 · see citing works
“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 · see citing works
“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
- 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 › Psychiatry and Mental health › 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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