The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
Abstract
A group of infant onset epilepsies manifest very frequent generalized tonic-clonic seizures (GTC) intractable to medical therapy, which may or may not be accompanied by minor seizures such as myoclonic seizures, absences and partial seizures. They include severe myoclonic epilepsy in infancy (SMEI) and intractable childhood epilepsy with GTC (ICEGTC). They are commonly associated with fever-sensitivity, family history of seizure disorders and developmental decline after seizure onset. Mutations of the neuronal voltage-gated sodium channel alpha subunit type 1 gene (SCN1A) were recently reported in SMEI patients. To clarify the genotypic differences in this group of epilepsies, we searched for SCN1A abnormalities in 25 patients with SMEI and 10 with ICEGTC, together with the family members of 15 patients. Frameshift mutations in SCN1A were observed in four patients, nonsense mutations in five patients, missense mutations in 21 patients, other mutations in two patients and no mutation in five patients. SMEI patients showed nonsense mutations, frameshifts, or missense mutations, while ICEGTC patients showed only missense mutations. Study of both parents of 11 patients revealed that the mutations in these patients were de novo. However, two mothers had the same missense mutations as their ICEGTC children, and they had generalized epilepsy with febrile seizures plus. Here we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
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?
In the citing paper
“Genomic sequencing data indicate that a number of mutations in the Scn1a gene contribute to a spectrum of different epileptic disorders affecting children, including de novo (Claes et al., 2001; Fujiwara et al., 2003) as well as missense, frame-shift, and nonsense mutations (Fujiwara et al., 2003).”
From The Perineuronal ‘Safety’ Net? Perineuronal Net Abnormalities in Neurological Disorders (2018) · cites this paper as Fujiwara et al., 2003
Citations
Cites
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
Guerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Scheffer, I. E. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 758
Hughes, J. R. (1990) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(90)90063-p · Cited by 503
Harkin, L. A., Bowser, D. N., Dibbens, L. M., Singh, R., Phillips, F., Wallace, R. H., Richards, M. C., Williams, D. A., Mulley, J. C., Berkovic, S. F., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/338710 · Cited by 441
Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus
Wallace, R. H., Scheffer, I. E., Barnett, S., Richards, M. C., Dibbens, L. M., Desai, R. R., Lerman‐Sagie, T., Lev, D., Mazarib, A., Brand, N. R., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/319516 · Cited by 343
Escayg, A., Heils, A., MacDonald, B. T., Haug, K., Sander, T., & Meisler, M. H. (2001) · The American Journal of Human Genetics · doi:10.1086/319524 · Cited by 276
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
Sugawara, T., Mazaki-Miyazaki, E., Fukushima, K., 下村, 次., Fujiwara, T., Hamano, S., Inoue, Y., & Yamakawa, K. (2002) · Neurology · doi:10.1212/wnl.58.7.1122 · Cited by 235
Cited by
Sorted by citations
Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., & Catterall, W. A. (2006) · Nature Neuroscience · doi:10.1038/nn1754 · Cited by 1,173
Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K., et al. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.5270-06.2007 · Cited by 879
“Both homozygous and heterozygous knock-in mice developed epileptic seizures within the first postnatal month.”
BackgroundTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., et al. (2013) · Nature Genetics · doi:10.1038/ng.2646 · Cited by 687
The spectrum of SCN1A-related infantile epileptic encephalopathies
Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L. M., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D. S., Farrell, K., et al. (2007) · Brain · doi:10.1093/brain/awm002 · Cited by 530
“S2) (Fujiwara et al., 2003; Nabbout et al., 2003a; Mulley et al., 2005).”
BackgroundResultInfluentialSodium channel mutations in epilepsy and other neurological disorders
Meisler, M. H. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25466 · Cited by 512
Metadata
- Authors
- Fujiwara, T.
- Affiliations
- National Epilepsy Center (JP)
- Corresponding author
- Fujiwara, T.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-03-01
- Volume
- 126
- Issue
- 3
- Pages
- 531-546
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2161749769
- Cited by
- 345
- References
- 32
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 8 · 2022: 7 · 2021: 13 · 2020: 36 · 2019: 6 · 2018: 5 · 2017: 10 · 2016: 11 · 2015: 14 · 2014: 19 · 2013: 19 · 2012: 12
- FWCI
- 13.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- 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, Dravet syndrome, generalized tonic-clonic seizures, missense mutations, frameshift mutation, nonsense mutation, de novo mutations, generalized epilepsy with febrile seizures plus, genotype-phenotype correlation, infantile epilepsy
- MeSH terms
- Adolescent, Adult, Body Temperature, Child, Child, Preschool, Seizures, Febrile, DNA Mutational Analysis, Epilepsy, Tonic-Clonic, Epilepsies, Myoclonic, Female, Heterozygote, Humans, Male, Nerve Tissue Proteins, Sodium Channels, Frameshift Mutation, Mutation, Missense, 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
