The DOI matches its Crossref record; 52 of the 52 references it cites were found in a registry or an index.
The spectrum of SCN1A-related infantile epileptic encephalopathies
Abstract
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.
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.
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
Engel, J. (2001) · Epilepsia · doi:10.1046/j.1528-1157.2001.10401.x · Cited by 2,251
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
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
(2005) · Cited by 944
Scheffer, I. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 755
Self-citationDenaturing high-performance liquid chromatography: A review
Xiao, W., & Oefner, P. J. (2001) · Human Mutation · doi:10.1002/humu.1130 · Cited by 725
Epileptic Syndromes in Infancy, Childhood and Adolescence
Stephenson, J. B. P. (2004) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2004.03.001 · Cited by 683
Hughes, J. R. (1990) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(90)90063-p · Cited by 502
Mulley, J. C., Scheffer, I. E., Petrou, S., Dibbens, L. M., Berkovic, S. F., & Harkin, L. A. (2005) · Human Mutation · doi:10.1002/humu.20178 · Cited by 351
Self-citation
Cited by
Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction
Goldberg, E. M., & Coulter, D. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3482 · Cited by 542
Symonds, J. D., Zuberi, S. M., Stewart, K., McLellan, A., O‘Regan, M., MacLeod, S., Jollands, A., Joss, S., Kirkpatrick, M., Brunklaus, A., et al. (2019) · Brain · doi:10.1093/brain/awz195 · Cited by 459
Self-citationVoltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders
Mantegazza, M., Curia, G., Biagini, G., Ragsdale, D. S., & Avoli, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70059-4 · Cited by 455
Catterall, W. A., Kalume, F., & Oakley, J. C. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.187484 · Cited by 428
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
Brunklaus, A., Ellis, R., Reavey, E., Forbes, G. H., & Zuberi, S. M. (2012) · Brain · doi:10.1093/brain/aws151 · Cited by 366
Self-citation
Metadata
- Authors
- Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., Harbord, M., Andermann, F., Wang, J., Batish, S. D., Jones, J. G., Seltzer, W. K., Gardner, A., The Infantile Epileptic Encephalopathy Referral Consortium, Sutherland, G., Berkovic, S. F., Mulley, J. C., & Scheffer, I. E.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-03-01
- Volume
- 130
- Issue
- 3
- Pages
- 843-852
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2011278122
- Cited by
- 531
- References
- 52
- FWCI
- 21.11
- Type
- journal article
- Language
- en
- Open access
- closed
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The spectrum of SCN1A-related infantile epileptic encephalopathies. https://app.cochat.ai/papers/10.1093/brain/awm002
- The paper
- Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., Harbord, M., Andermann, F., Wang, J., Batish, S. D., Jones, J. G., Seltzer, W. K., Gardner, A., . . . Scheffer, I. E. (2007). The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. https://doi.org/10.1093/brain/awm002
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
