The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism
Open accessAbstract
Background Genetic mutations play a crucial role in the etiology of cryptogenic infantile spasms, but the cause is still unknown in a significant proportion of patients. Whole exome sequencing technology shows great promise in identifying genetic causes of infantile spasms.Methods In this study whole exome sequencing was performed with 2-deoxy-2-((18)F)fluoro-d-glucose positron emission tomography scan of an infant boy with infantile spasms. Exome sequencing was also performed in the parents to identify any de novo mutations.Results The positron emission tomography scan showed a pattern of bilateral symmetric temporal lobe glucose hypometabolism. A total of 8171 nonsynonymous variants were identified in the child. Despite the large number of nonsynonymous variants, there was only a single de novo missense mutation in SCN2A in the child (NCBI hg19 assembly, position: Chr2:166234116, K1422E). Subsequent Sanger sequencing confirmed the de novo status of this variant. This mutation has never been reported in 6500 individuals of the exome variant server database. Similarly, this variant is not reported in the Online Mendelian Inheritance in Man Database or the Human Gene Mutation Database. It has previously been shown that SCN2A mutations are associated with hippocampal hyperexcitability. Therefore, this study indicates that infantile spasms and bitemporal hypometabolism in this patient might have been caused by hippocampal hyperexcitability due to SCN2A mutation.Conclusions The simultaneous presence of an SCN2A mutation and bitemporal hypometabolism in this patient with infantile spasms suggests a plausible hippocampal origin. However, additional mechanistic and clinical studies are required to validate this link.
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“A child with this variant developed seizures at 13 months with developmental regression and features of ASD [39].”
From Progress in Understanding and Treating SCN2A-Mediated Disorders (2018) · cites this paper as [39]
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Cites
Rate, molecular spectrum, and consequences of human mutation
Lynch, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912629107 · Cited by 792
Chugani, H. T., Shields, W. D., Shewmon, D. A., Olson, D. M., Phelps, M. E., & Peacock, W. J. (1990) · Annals of Neurology · doi:10.1002/ana.410270408 · Cited by 612
Self-citationPrecise characterization and quantification of infantile spasms
Kellaway, P., Hrachovy, R. A., Frost, J. D., et al. (1979) · Annals of Neurology · doi:10.1002/ana.410060306 · Cited by 290
Osborne, J. P., Lux, A. L., Edwards, S. W., Hancock, E. C., Johnson, A. L., Kennedy, C., Newton, R., Verity, C. M., & O'Callaghan, F. J. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02695.x · Cited by 239
De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies
Ogiwara, I., Ito, K., Sawaishi, Y., Osaka, H., Mazaki, E., Inoue, I., Montal, M., Hashikawa, T., Shike, T., Fujiwara, T., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181b9cebc · Cited by 205
The Descriptive Epidemiology of Infantile Spasms Among Atlanta Children
Trevathan, E., Murphy, C. C., & Yeargin‐Allsopp, M. (1999) · Epilepsia · doi:10.1111/j.1528-1157.1999.tb00773.x · Cited by 168
Genetic and Biologic Classification of Infantile Spasms
Paciorkowski, A. R., Thio, L. L., & Dobyns, W. B. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.08.010 · Cited by 167
Chugani, H. T., da Silva, E. D., & Chugani, D. (1996) · Annals of Neurology · doi:10.1002/ana.410390514 · Cited by 147
Self-citationIncidence and Aetiology of Infantile Spasms from 1960 to 1976: a Population Study in Finland
Riikonen, R., & Donner, M. (1979) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1979.tb01625.x · Cited by 139
Etiologic Classification of Infantile Spasms in 140 Cases: Role of Positron Emission Tomography
Chugani, H. T., & Conti, J. R. (1996) · Journal of Child Neurology · doi:10.1177/088307389601100111 · Cited by 117
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain · doi:10.1093/brain/awx054 · Cited by 600
Progress in Understanding and Treating SCN2A-Mediated Disorders
Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., et al. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.03.011 · Cited by 338
“A child with this variant developed seizures at 13 months with developmental regression and features of ASD [39].”
BackgroundSCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001926 · Cited by 255
Wolff, M., Brunklaus, A., & Zuberi, S. M. (2019) · Epilepsia · doi:10.1111/epi.14935 · Cited by 105
Metadata
- Authors
- Sundaram, S. K., Chugani, H. T., Tiwari, V. N., & Huq, A. H. M. M.
- Affiliations
- Wayne State University (US)
- Corresponding author
- Chugani, Harry T.
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2013-07
- Volume
- 49
- Issue
- 1
- Pages
- 46-49
- ISSN
- 0887-8994 (ISSN-L)
- PMC
- PMC3868437
- OpenAlex
- W2062446363
- Cited by
- 34
- References
- 13
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 5 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 4 · 2017: 2 · 2015: 5 · 2014: 5
- FWCI
- 2.61
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD059817)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Keywords
- infantile spasms, de novo missense variant, hippocampal hyperexcitability, temporal lobe, genetic etiology of epilepsy
- MeSH terms
- Glucose, Humans, Infant, Male, Mutation, Radionuclide Imaging, Spasms, Infantile, Temporal Lobe, NAV1.2 Voltage-Gated Sodium Channel
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