The DOI matches its Crossref record; 65 of the 66 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Epileptic Syndromes in Infancy, Childhood and Adolescence
Rogers, J., Bureau, M., Dravet, C., Dreifuss, F. E., Perret, A. P., Wolf, P., & Armstrong, D. L. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199307000-00012 · Cited by 1,465
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., & De Jonghe, P. (2001) · The American Journal of Human Genetics · doi:10.1086/320609 · Cited by 1,292
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics · doi:10.1038/74159 · Cited by 996
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
Dichgans, M., Freilinger, T. M., Eckstein, G., Babini, E., Lorenz‐Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66786-4 · Cited by 852
Scheffer, I. E. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 758
Self-citationUnifying the definitions of sudden unexpected death in epilepsy
Nashef, L., So, E. L., Ryvlin, P., & Tomson, T. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2011.03358.x · Cited by 632
Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2441 · Cited by 525
Self-citationThe International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07524-z · Cited by 482
Self-citationCatterall, W. A., Kalume, F., & Oakley, J. C. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.187484 · Cited by 428
Research works printed but not linked: 1
- Guerrini R, 2012, Epileptic Syndromes in Infancy, Childhood and Adolescence, 1
Cited by
Sorted by citations
Items 201–244 of 244
Emicrania emiplegica familiare
Grangeon, L., Riant, F., & Ducros, A. (2023) · EMC - Neurologia · doi:10.1016/s1634-7072(23)47856-7
Experimental Models for the Study of Drug-Resistant Epilepsy
Fuentes-Mejía, M., Nuñez-Lumbreras, A., Martínez-Aguirre, C., & Rocha, L. L. (2023) · Springer eBooks · doi:10.1007/978-3-031-36526-3_3
Features of epileptic encephalopathy caused by SCN1A mutation
Kyrylova, L. G., Yuzva, О. О., Miroshnikov, О. О., & Beregela, O. V. (2023) · INTERNATIONAL NEUROLOGICAL JOURNAL · doi:10.22141/2224-0713.19.4.2023.1007
A Novel SCN1A Mutation Associated With Reflex Seizures Induced by Movements
Gong, C., Li, Q., Li, X., Yu, X., & Li, D. (2023) · Cureus · doi:10.7759/cureus.46702
Biobank participation of persons with epilepsy in South Wales
Baker, M. D. (2023) · doi:10.23889/suthesis.64845
AŞI İLİŞKİLİ NÖBETLERDE DRAVET SENDROMU AKLA GELMELİDİR
KORAL, Ü., Alpcan, A., Tursun, S., & Şenbil, N. (2023) · Kırıkkale Üniversitesi Tıp Fakültesi Dergisi · doi:10.24938/kutfd.1344735
Late Sodium Current Promotes Ventricular Arrhythmia in Epilepsy-Related Sudden Death
George, A. L. (2024) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2024.02.029
Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders
Loos, M. A., Touzón, M. S., Reyes, G., Juanes, M., & Caraballo, R. H. (2024) · Journal of Pediatric Epilepsy · doi:10.1055/s-0044-1786374
“17 Most of the variants show an autosomal dominant pattern of inheritance in which de novo and loss-of-function variants are the most frequently reported.”
Caraballo, R. H., Veneruzzo, G., Loos, M. A., Reyes, G., Juanes, M., Martín, E., Melgarejo, S., Touzón, M. S., & Alonso, C. N. (2024) · Journal of Pediatric Epilepsy · doi:10.1055/s-0044-1786365
“4 – 6 The SE may be life-threatening, and sudden unexpected death in epilepsy can occur.”
BackgroundValdés, A. J. B., & Jiménez, J. A. (2024) · Clinical Cardiology and Cardiovascular Interventions · doi:10.31579/2641-0419/371
Management of Febrile Status Epilepticus
Curran, M. M., & Baram, T. Z. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0069
Targeted Augmentation of Nuclear Gene Output (TANGO)
Isom, L. L., & Knupp, K. G. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0075
Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review
Favaro, J., Ancora, C., Brunello, F., Paolin, C., Cavaliere, E., Carraro, S., Poskurica, I., Pegoraro, V., Cogo, P. E., Bonardi, C. M., et al. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.64
Deciphering the dynamic clinical patterns in SCN8A -related disorders using real-world dataPreprint
Magielski, J. H., Cohen, S. R., Kaufman, M. C., Parthasarathy, S., Xian, J., Brimble, E., Fitter, N., Furia, F., Gardella, E., Møller, R. S., et al. (2024) · medRxiv · doi:10.1101/2024.10.21.24315870
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.98661.2
Molecular genetic causes of epilepsy in children
Yanin, K. R., Gumeniuk, O. I., Коротков, А. Г., & Yanina, T. A. (2024) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202412411260
Clinical and genomic profiles of malignant peripheral nerve sheath tumors in the craniospinal axis
Li, H., Yu, Y., Zheng, D., Dong, G., Lin, S., Liu, X., & Ren, X. (2025) · Journal of Neuro-Oncology · doi:10.1007/s11060-025-04953-x
Cilio, M. R., Carapancea, E., & Sands, T. T. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00084-6
Integration of Mathematical Modeling for Enhanced Seizure Risk Stratification and Prognostication
Le, V.-H.-P., Nguyen, N.-N.-Q., Dieu, H.-T., Nguyen, T.-T.-S., Nguyen, Y. T. M., & Bui, C. (2025) · World Congress on Medical Physics and Biomedical Engineering, September 7 - 12, 2009, Munich, Germany · doi:10.1007/978-3-031-90194-2_24
Molecular Genetic Causes of Epilepsy in Children
Yanin, K. R., Gumeniuk, O. I., Korotkov, A. G., & Yanina, T. A. (2025) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-025-01823-x
“Most patients with GEFS+ have normal psychomotor development and may experience spontaneous or drug-induced remission of seizures at a later age [43, 44].”
Data Science Approach to evaluate Homeostatic Plasticity
Saha, A., Kholiya, D., Tiwari, R., Tripathi, N., Singh, A. K., & Singh, A. (2024) · International Conference on Advances in Computing, Communication and Materials (ICACCM) · doi:10.1109/icaccm61117.2024.11059022
“Genetic epilepsies resulting from changes in SCN1A region those first cause benign, self-limiting febrile seizures but eventually cause devastating developmental and epileptic encephalopathies, such as Dravet syndrome, which result in severe impairment and limited future possibilities [20, 21].”
Grodzka, O., Chądzyński, P. R., Makulec, A., & Domitrz, I. (2025) · Archives of Medical Science · doi:10.5114/aoms/209093
“The most common conditions related to the three main genes associated with FHM have been summarized in Table I [5–7].”
Ueta, Y., Ohara, H., Awaya, T., & Hagiwara, M. (2025) · Methods in molecular biology · doi:10.1007/978-1-0716-4738-7_12
Rozwadowska, P., Rodak, M., & Paprocka, J. (2025) · Annales Academiae Medicae Silesiensis · doi:10.18794/aams/211875
“Epilepsy caused by SCN1A mutation characterizes with drug-resistance and requires multidirectional therapy [7].”
InfluentialNguyen-Martinez, A. L., Jolliffe, M., Scimeca, L. M., Park, K., Demarest, S., Knupp, K. G., Angione, K. M., & Miele, A. S. (2025) · Child Neuropsychology · doi:10.1080/09297049.2025.2591632
“Several SCN1A -related epilepsies have been documented, ranging from genetic epilepsy with febrile seizures plus (GEFS+) to DEEs such as Dravet syndrome (see Scheffer & Nabbout, 2019, for a detailed description of several SCN1A -related phenotypes).”
Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment
Wenker, I. C., Gehlbach, B. K., Isom, L. L., Dlouhy, B. J., Auerbach, D. S., Maguire, J. L., & Boychuk, C. R. (2026) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597261416723
“46 In addition to severe seizures, DS patients have profound intellectual disability, developmental delays, movement and balance issues, language and speech disturbances, growth defects, sleep abnormalities, disruptions of the autonomic nervous system, and mood disorders.”
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Liebovitz, L. N., Thompson, C. H., Laux, L., & George, A. L. (2026) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.70344
Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-YearsPreprint
Prentice, A. J., McSalley, I., Magielski, J. H., Mercurio, J., Tefft, S., Winters, A., Kaufman, M. C., Ruggiero, S. M., McGarry, L. M., Hood, V. L., et al. (2026) · medRxiv · doi:10.64898/2026.02.24.26346493
Impact de l'épilepsie sur les fonctions exécutives et attentionnelles à l'âge préscolaire
Breuillard, D. (2020) · theses.fr (ABES) · doi:10.70675/70cb3bd1z80aaz461dz910ez278c69b52b51
Research progress on the relationship between long QT syndrome (LQTS) and epilepsy: A review
Li, Q., & Meng, L.-B. (2026) · Medicine · doi:10.1097/md.0000000000048282
Ferretti, A., Riva, A., Perilli, L., Parisi, P., & Striano, P. (2026) · Expert Opinion on Drug Safety · doi:10.1080/14740338.2026.2666178
“Behavioral disturbances, including attention deficit and hyper-activity, frequently persist throughout childhood and adolescence [8,98], complicating real-world tolerability assessments.”
Al-Sadir, H., Al-Farhood, A., Yousef, A., Abduljabbar, R., Abdullah, S., Abuhaliema, A., & Kasabri, V. N. (2026) · Pharmaceuticals · doi:10.3390/ph19050712
“Findings from this study could enable clinicians to customize treatment based on patients’ genetic profiles, thereby improving clinical outcomes and advancing our understanding of SNPs within the SCN1A gene [26].”
Phenytoin Intoxication Masquerading as Generalized Chorea
Tayade, K. (2026) · Neurology and Clinical Neuroscience · doi:10.1002/ncn3.70118
“SCN1A-related disorders span a broad phenotypic spectrum, and milder variants may present with generalized tonic–clonic seizures alone [17].”
Peroni, G., Ravenscroft, C., Balestrini, S., & Sisodiya, S. M. (2026) · Clinical Neurophysiology Practice · doi:10.1016/j.cnp.2026.05.010
“…genetic epilepsy with febrile seizures plus (GEFS + ) and Dravet syndrome (DS), which show marked susceptibility to even modest elevations in body temperature and rapid changes in ambient temperature, typically resulting in seizures during febrile episodes in childhood (Scheffer and Nabbout, 2019).”
Multi-Omics Dissection of the Shared Genetic Architecture Between Sleep Traits and Epilepsy
Wang, T., Li, J., Chen, D., Liu, Y., Fang, C., Wang, X., Song, Z., Guo, M., Wang, Y., Naumovski, N., et al. (2026) · Biology · doi:10.3390/biology15110892 · Cited by 1
Deng, X., Xu, Y., Chen, X. H., Pan, J., Huang, S., & Sun, D. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1828448
The role of SCN1A mutations in temporal lobe epilepsy: Genetic insights and clinical implications
Alrabadi, B., Matar, H. I., Marouf, M., Bandak, N., Batarseh, S. F., Badran, Z., Hazaimeh, H., & Yassin, A. (2026) · Epileptic Disorders · doi:10.1002/epd2.70303
Алексеевич, П. М., Skovorodko, P., Dorchenko, E., Milorava, G., Ivanova, E., Aigubova, Z., & Sarkisova, M. (2026) · Scripta Medica · doi:10.5937/scriptamed57-67911
“31, 32 The degree of interneuron hypoexcitability and the extent of network disinhibition correlate with phenotypic severity: haploinsufficiency leading to near-complete loss of NaV1.”
Sodium channel blockers are not absolutely contraindicated for SCN1A-related epilepsyPreprint
Zhao, H., Zhang, Q., Wang, Q.-H., Qian, L., Wang, J., Dun, S., Xu, B., & Zou, L. (2026) · Research Square · doi:10.21203/rs.3.rs-10813416/v1
LONGITUDINAL GLOBAL AND DOMAIN-SPECIFIC NEURODEVELOPMENTAL TRAJECTORIES IN SCN1A-RELATED DISORDERS
Kanzoska, L. M., Dukovska, V., & Arsov, T. (2026) · International Journal of Medicine & Healthcare · doi:10.58885/ijmh.v11i1.09.lmk
SCN1A-Related Epilepsies: Clinical Spectrum and Mechanisms
Moon, J.-U., & Eom, T. (2026) · Current Issues in Molecular Biology · doi:10.3390/cimb48101023
“ICE-GTC is characterized by generalized seizures, including frequent generalized tonic–clonic seizures and sometimes absence seizures, with onset in infancy or childhood; seizures are often treatment-resistant [2,7].”
InfluentialRigoldi, L. C. F., do Valle, D. A., de Souza, M. C., Kormann, M. A., Fidalski, S. A., Santos, M. L. S. F., & Cordeiro, M. L. (2026) · Journal of Clinical Medicine · doi:10.3390/jcm15208034
“Less frequently, variants in other genes, such as SCN2A , GABRA1 , and STXBP1 , have been reported in DS-like phenotypes [6–8].”
BindingDB Entry 50019362: Discovery of selective Na
BindingDB (2024) · UC San Diego · doi:10.7270/q2p273gp
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
