The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies
Open accessAbstract
BACKGROUND: Mutations of voltage-gated sodium channel alpha(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique. To validate the involvement of de novo SCN2A mutations in the etiology of intractable epilepsies, we sought to identify additional instances. METHODS: We performed mutational analyses on SCN2A in 116 patients with severe myoclonic epilepsy in infancy, infantile spasms, and other types of intractable childhood partial and generalized epilepsies and did whole-cell patch-clamp recordings on Na(v)1.2 channels containing identified mutations. RESULTS: We discovered 2 additional de novo SCN2A mutations. One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms. SCN2A-E1211K produced channels with altered electrophysiologic properties compatible with both augmented (an approximately 18-mV hyperpolarizing shift in the voltage dependence of activation) and reduced (an approximately 22-mV hyperpolarizing shift in the voltage dependence of steady-state inactivation and a slowed recovery from inactivation) channel activities. The other de novo mutation, SCN2A-I1473M, was identified in a patient with sporadic neonatal epileptic encephalopathy. SCN2A-I1473M caused an approximately 14-mV hyperpolarizing shift in the voltage dependence of activation. CONCLUSIONS: The identified de novo mutations SCN2A-E1211K, -I1473M, and -R102X indicate that SCN2A is an etiologic candidate underlying a variety of intractable childhood epilepsies. The phenotypic variations among patients might be due to the different electrophysiologic properties of mutant channels.
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
“Some reports have described clinical improvement with less mainstream medications, including lidocaine in children with infantile epileptic encephalopathy [56,57], ethosuximide for late-onset seizures [25], and acetazolamide for episodic ataxia [28,29], though data on the generalizability of these effects are limited.”
From Progress in Understanding and Treating SCN2A-Mediated Disorders (2018) · cites this paper as [56]
The cited source says what the claim attributes to it.
In the citing paper
“While the observation of seizure improvement is based only on retrospective clinical review, this finding reinforces previous observations of drug response: withdrawal of phenytoin provoking status epilepticus in one case, status treated with fosphenytoin in another, 2 seizure-free on lamotrigine, and one with seizure control on lidocaine.6,12,14”
From SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (2015) · cites this paper as [6]
In the citing paper
“The second strongest overall association, with two truncating mutations in ASD cases and three such mutations in ID cases, is SCN2A, a gene previously associated with epilepsy and seizure disorders [52,53].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [53]
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
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
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
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
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
Self-citationScheffer, I. E. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 758
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
Sodium channel mutations in epilepsy and other neurological disorders
Meisler, M. H. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25466 · Cited by 512
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S. E., Crossland, K. M., Andermann, E., Phillips, H. A., Hall, A. J., Bleasel, A., Shevell, M. I., Mercho, S., Seni, M., Guiot, M., et al. (2002) · The Lancet · doi:10.1016/s0140-6736(02)09968-3 · Cited by 378
Sugawara, T., Tsurubuchi, Y., Agarwala, K. L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111065098 · Cited by 378
Self-citationMulley, 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
Cited by
Sorted by citations
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Targeted 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
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
Neurodevelopmental disorders—the history and future of a diagnosticconcept
Morris-Rosendahl, D. J., & Crocq, M. (2020) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2020.22.1/macrocq · Cited by 607
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.013 · Cited by 439
Clinical application of exome sequencing in undiagnosed genetic conditions
Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M., Meisler, M. H., & Goldstein, D. B. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100819 · Cited by 438
A de novo convergence of autism genetics and molecular neuroscience
Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423
Sodium channel SCN1A and epilepsy: Mutations and mechanisms
Escayg, A., & Goldin, A. L. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02640.x · Cited by 410
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
“Some reports have described clinical340 improvement with less mainstream medications, including lidocaine (Foster et al., 2017;341 Ogiwara et al., 2009), ethosuximide (Wolff et al., 2017), and acetazolamide (Leach et al.,342 2016; Y Liao et al., 2010), though data on the generalizability of these…”
BackgroundBen-Shalom, R., Keeshen, C. M., Berrios, K. N., An, J. Y., Sanders, S. J., & Bender, K. J. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.01.009 · Cited by 288
SCN2A 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
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
Meisler, M. H., O’Brien, J. E., & Sharkey, L. M. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.188482 · Cited by 215
A roadmap for precision medicine in the epilepsies
† (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00199-4 · Cited by 197
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a43e57 · Cited by 201
Self-citationSodium channelopathies in neurodevelopmental disorders
Meisler, M. H., Hill, S. F., & Yu, W. (2021) · Nature reviews. Neuroscience · doi:10.1038/s41583-020-00418-4 · Cited by 210
Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013
Pavone, P., Striano, P., Falsaperla, R., Pavone, L., & Ruggieri, M. (2013) · Brain and Development · doi:10.1016/j.braindev.2013.10.008 · Cited by 197
Sodium Channels, Inherited Epilepsy, and Antiepileptic Drugs
Catterall, W. A. (2014) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-011112-140232 · Cited by 202
The genetic landscape of infantile spasms
Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu199 · Cited by 191
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
Liao, Y., Deprez, L., Maljevic, S., Pitsch, J., Claes, L., Hristova, D., Jordanova, A., Ala-Mello, S., Bellan-Koch, A., Blazevic, D., et al. (2010) · Brain · doi:10.1093/brain/awq057 · Cited by 185
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
Liao, Y., Anttonen, A.-K., Liukkonen, E., Gaily, E., Maljevic, S., Schubert, S., Bellan-Koch, A., Petrou, S., Ahonen, V. E., Lerche, H., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f8812e · Cited by 170
Autism spectrum disorder and epilepsy: Disorders with a shared biology
Lee, B. H., Smith, T., & Paciorkowski, A. R. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2015.03.017 · Cited by 172
Dravet syndrome—From epileptic encephalopathy to channelopathy
Brunklaus, A., & Zuberi, S. M. (2014) · Epilepsia · doi:10.1111/epi.12652 · Cited by 161
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery
Imbrici, P., Liantonio, A., Camerino, G. M., Bellis, M. D., Camerino, C., Mele, A., Giustino, A., Pierno, S., Luca, A. D., Tricarico, D., et al. (2016) · Frontiers in Pharmacology · doi:10.3389/fphar.2016.00121 · Cited by 151
Wei, F., Yan, L.-M., Su, T., He, N., Lin, Z.-J., Wang, J., Shi, Y., Yi, Y., & Liao, W. (2017) · Neuroscience Bulletin · doi:10.1007/s12264-017-0134-1 · Cited by 147
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review
Menezes, L. F. S., Júnior, E. F. S., Tibery, D. V., Carneiro, L. D. A., & Schwartz, E. F. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.01276 · Cited by 143
Sodium channelopathies of skeletal muscle and brain
Mantegazza, M., Cestèle, S., & Catterall, W. A. (2021) · Physiological Reviews · doi:10.1152/physrev.00025.2020 · Cited by 137
Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
Mastrangelo, M., & Leuzzi, V. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.11.003 · Cited by 129
The phenotypic spectrum of SCN2A-related epilepsy
Reynolds, C., King, M. D., & Gorman, K. M. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.016 · Cited by 124
Zara, F., Specchio, N., Striano, P., Robbiano, A., Gennaro, E., Paravidino, R., Vanni, N., Beccaria, F., Capovilla, G., Bianchi, A., et al. (2013) · Epilepsia · doi:10.1111/epi.12089 · Cited by 125
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Wagnon, J. L., & Meisler, M. H. (2015) · Frontiers in Neurology · doi:10.3389/fneur.2015.00104 · Cited by 122
Sodium channels and the neurobiology of epilepsy
Oliva, M., Berkovic, S. F., & Petrou, S. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03631.x · Cited by 124
Clinical spectrum of SCN2A mutations
Shi, X., Yasumoto, S., Kurahashi, H., Nakagawa, E., Fukasawa, T., Uchiya, S., & Hirose, S. (2011) · Brain and Development · doi:10.1016/j.braindev.2011.09.016 · Cited by 122
Impaired cortico-striatal excitatory transmission triggers epilepsy
Miyamoto, H., Tatsukawa, T., Shimohata, A., Yamagata, T., Suzuki, T., Amano, K., Mazaki, E., Raveau, M., Ogiwara, I., Asaka-Oba, A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09954-9 · Cited by 124
Self-citationRole of Sodium Channels in EpilepsyPreprint
Kaplan, D. I., Isom, L. L., & Petrou, S. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a022814 · Cited by 123
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice
Ogiwara, I., Miyamoto, H., Tatsukawa, T., Yamagata, T., Nakayama, T., Atapour, N., Miura, E., Mazaki, E., Ernst, S. J., Cao, D., et al. (2018) · Communications Biology · doi:10.1038/s42003-018-0099-2 · Cited by 115
Self-citationWolff, M., Brunklaus, A., & Zuberi, S. M. (2019) · Epilepsia · doi:10.1111/epi.14935 · Cited by 105
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Brunklaus, A., Du, J., Steckler, F., Ghanty, I., Johannesen, K. M., Fenger, C., Schorge, S., Báez-Nieto, D., Wang, H., Allen, A., et al. (2020) · Epilepsia · doi:10.1111/epi.16438 · Cited by 98
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
de Kovel, C. G. F., Meisler, M. H., Brilstra, E. H., van Berkestijn, F. M. C., Slot, R. V. ‘., van Lieshout, S., Nijman, I. J., O’Brien, J. E., Hammer, M. F., Estación, M., et al. (2014) · Epilepsy Research · doi:10.1016/j.eplepsyres.2014.08.020 · Cited by 93
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-015-7984-0 · Cited by 95
Axon initial segment dysfunction in epilepsy
Wimmer, V. C., Reid, C. A., So, E., Berkovic, S. F., & Petrou, S. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.188417 · Cited by 93
The SCN1A gene variants and epileptic encephalopathies
Parihar, R., & Ganesh, S. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.77 · Cited by 88
Ogiwara, I., Nakayama, T., Yamagata, T., Ohtani, H., Mazaki, E., Tsuchiya, S., Inoue, Y., & Yamakawa, K. (2012) · Epilepsia · doi:10.1111/epi.12040 · Cited by 88
Self-citationKobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2015.09.011 · Cited by 84
Tatsukawa, T., Raveau, M., Ogiwara, I., Hattori, S., Miyamoto, H., Mazaki, E., Itohara, S., Miyakawa, T., Montal, M., & Yamakawa, K. (2019) · Molecular Autism · doi:10.1186/s13229-019-0265-5 · Cited by 87
Self-citationDiagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy
Gürsoy, S., & Erçal, D. (2015) · Journal of Child Neurology · doi:10.1177/0883073815599262 · Cited by 84
Shin, W., Kweon, H., Kang, R., Kim, D., Kim, K., Kang, M., Kim, S. Y., Hwang, S. N., Kim, J. Y., Yang, E., et al. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00145 · Cited by 83
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy
Dilena, R., Striano, P., Gennaro, E., Bassi, L., Olivotto, S., Tadini, L., Mosca, F., Barbieri, S., Zara, F., & Fumagalli, M. (2016) · Brain and Development · doi:10.1016/j.braindev.2016.10.015 · Cited by 76
Precision medicine in genetic epilepsies: break of dawn?
Reif, P. S., Tsai, M., Helbig, I., Rosenow, F., & Klein, K. M. (2016) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2017.1253476 · Cited by 77
Baasch, A., Hüning, I., Gilissen, C., Klepper, J., Veltman, J. A., Gillessen‐Kaesbach, G., Hoischen, A., & Lohmann, K. (2014) · Epilepsia · doi:10.1111/epi.12554 · Cited by 71
Ademuwagun, I. A., Rotimi, S. O., Syrbe, S., Ajamma, Y. U., & Adebiyi, E. F. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.600050 · Cited by 68
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Crawford, K., Xian, J., Helbig, K. L., Galer, P. D., Parthasarathy, S., Lewis‐Smith, D., Kaufman, M. C., Fitch, E., Ganesan, S., O’Brien, M., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01120-1 · Cited by 58
Middleton, S. J., Kneller Emily, M., Chen, S., Ogiwara, I., Montal, M., Yamakawa, K., & McHugh, T. J. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0163-8 · Cited by 70
Self-citationVaher, U., Nõukas, M., Nikopensius, T., Kals, M., Annilo, T., Nelis, M., Õunap, K., Reimand, T., Talvik, I., Ilves, P., et al. (2013) · Journal of Child Neurology · doi:10.1177/0883073813511300 · Cited by 66
Begemann, A., Acuña, M. A., Zweier, M., Vincent, M., Steindl, K., Bachmann‐Gagescu, R., Hackenberg, A., Abela, L., Plecko, B., Kroell-Seger, J., et al. (2019) · Molecular Medicine · doi:10.1186/s10020-019-0073-6 · Cited by 66
Self-citationPapale, L. A., Makinson, C. D., Ehlen, J. C., Tufik, S., Decker, M. J., Paul, K. N., & Escayg, A. (2013) · Epilepsia · doi:10.1111/epi.12060 · Cited by 63
Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
Nakayama, T., Ogiwara, I., Ito, K., Kaneda, M., Mazaki, E., Osaka, H., Ohtani, H., Inoue, Y., Fujiwara, T., Uematsu, M., et al. (2010) · Human Mutation · doi:10.1002/humu.21275 · Cited by 62
Self-citationVoltage-Gated Sodium Channels: Mutations, Channelopathies and Targets
Andavan, G. S. B., & Lemmens‐Gruber, R. (2011) · Current Medicinal Chemistry · doi:10.2174/092986711794839133 · Cited by 61
Touma, M., Joshi, M. M., Towne, M. C., Grant, P. E., Hansen, A. R., Khwaja, O., Berry, G. T., Kinney, H. C., Poduri, A., & Agrawal, P. B. (2013) · Epilepsia · doi:10.1111/epi.12137 · Cited by 58
Yamagata, T., Ogiwara, I., Mazaki, E., Yanagawa, Y., & Yamakawa, K. (2017) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2017.08.013 · Cited by 57
Self-citationYe, M., Yang, J., Tian, C., Zhu, Q., Yin, L., Jiang, S., Yang, M., & Shu, Y. (2018) · Scientific Reports · doi:10.1038/s41598-017-17344-8 · Cited by 54
From next-generation sequencing to targeted treatment of non-acquired epilepsies
Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R., & Johannesen, K. M. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1573144 · Cited by 53
Léna, I., & Mantegazza, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-49392-7 · Cited by 57
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies
Nicita, F., Liso, P. D., Danti, F. R., Papetti, L., Ursitti, F., Castronovo, A., Allemand, F., Gennaro, E., Zara, F., Striano, P., et al. (2011) · Seizure · doi:10.1016/j.seizure.2011.08.007 · Cited by 51
Functional Nutrients for Epilepsy
Kim, J., & Cho, K. (2019) · Nutrients · doi:10.3390/nu11061309 · Cited by 52
Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants
Thompson, C. H., Ben‐Shalom, R., Bender, K. J., & George, A. L. (2020) · The Journal of General Physiology · doi:10.1085/jgp.201912442 · Cited by 51
Stanslowsky, N., Reinhardt, P., Glaß, H., Kalmbach, N., Naujock, M., Hensel, N., Lübben, V., Pal, A., Venneri, A., Lupo, F., et al. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.0456-16.2016 · Cited by 49
SCN 2A channelopathies: Mechanisms and models
Hedrich, U. B. S., Lauxmann, S., & Lerche, H. (2019) · Epilepsia · doi:10.1111/epi.14731 · Cited by 54
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
Asher, Y. J. T., & Scaglia, F. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.04.002 · Cited by 45
Regulatory genes and pathways disrupted in autism spectrum disorders
Ayhan, F., & Konopka, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.017 · Cited by 46
Lauxmann, S., Boutry‐Kryza, N., Rivier, C., Mueller, S., Hedrich, U. B. S., Maljevic, S., Szepetowski, P., Lerche, H., & Lesca, G. (2013) · Epilepsia · doi:10.1111/epi.12241 · Cited by 43
Wang, J., Shi, X., Kurahashi, H., Hwang, S., Ishii, A., Higurashi, N., Kaneko, S., & Hirose, S. (2012) · Epilepsy Research · doi:10.1016/j.eplepsyres.2012.06.006 · Cited by 41
Sodium Channel Mutations and Epilepsy
Catterall, W. A. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0052 · Cited by 43
Kotlar, A., Mercer, K. B., Zwick, M. E., & Mullé, J. G. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.10.008 · Cited by 42
Ku, C., Tan, E. K., & Cooper, D. N. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101519 · Cited by 41
Relationship of electrophysiological dysfunction and clinical severity inSCN2A-related epilepsies
Lauxmann, S., Verbeek, N. E., Liu, Y., Zaichuk, M., Müller, S., Lemke, J. R., van Kempen, M. J. A., Lerche, H., & Hedrich, U. B. S. (2018) · Human Mutation · doi:10.1002/humu.23619 · Cited by 39
Yang, J., Yang, Z. R., & Zhang, T. (2010) · Toxicology Letters · doi:10.1016/j.toxlet.2010.06.013 · Cited by 39
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants
Berecki, G., Howell, K. B., Heighway, J., Olivier, N. B., Rodda, J., Overmars, I., Vlaskamp, D. R. M., Ware, T. L., Ardern‐Holmes, S. L., Lesca, G., et al. (2022) · Communications Biology · doi:10.1038/s42003-022-03454-1 · Cited by 39
Importance of position 8 in μ‐conotoxin KIIIA for voltage‐gated sodium channel selectivity
Haegen, A. V. D., Peigneur, S., & Tytgat, J. (2011) · FEBS Journal · doi:10.1111/j.1742-4658.2011.08264.x · Cited by 38
Confirming an expanded spectrum of SCN2A mutations: a case series
Matalon, D. R., Goldberg, E. M., Medne, L., & Marsh, E. D. (2014) · Epileptic Disorders · doi:10.1684/epd.2014.0641 · Cited by 37
Association of genes with phenotype in autism spectrum disorder
Nisar, S., Hashem, S., Bhat, A. A., Syed, N., Yadav, S. K., Azeem, M. W., Shahab Uddin, M. S., Bagga, P., Reddy, R. D., & Haris, M. (2019) · Aging · doi:10.18632/aging.102473 · Cited by 39
Saitoh, M., Ishii, A., Ihara, Y., Hoshino, A., Terashima, H., Kubota, M., Kikuchi, K., Yamanaka, G., Amemiya, K., Hirose, S., et al. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.08.001 · Cited by 35
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes
Mastrangelo, M. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2015.04.001 · Cited by 35
SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism
Sundaram, S. K., Chugani, H. T., Tiwari, V. N., & Huq, A. H. M. M. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.03.002 · Cited by 34
Syrbe, S., Zhorov, B. S., Bertsche, A., Bernhard, M. K., Hornemann, F., Mütze, U., Hoffmann, J., Hörtnagel, K., Kieß, W., Hirsch, W., et al. (2016) · Molecular Syndromology · doi:10.1159/000447526 · Cited by 34
The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome
Heinzen, E. L., Neale, B. M., Traynelis, S. F., Allen, A. S., & Goldstein, D. B. (2015) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071714-034136 · Cited by 33
Roles for Countercharge in the Voltage Sensor Domain of Ion Channels
Groome, J. R., & Bayless-Edwards, L. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.00160 · Cited by 33
Echevarria-Cooper, D. M., Hawkins, N. A., Misra, S. N., Huffman, A. M., Thaxton, T. T., Thompson, C. H., Ben‐Shalom, R., Nelson, A. D., Lipkin, A. M., George, A. L., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac087 · Cited by 34
Episodic ataxia associated with a de novo SCN2A mutation
Leach, E. L., van Karnebeek, C. D. M., Townsend, K. N., Tarailo-Graovac, M., Hukin, J., & Gibson, W. T. (2016) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2016.05.020 · Cited by 32
Diverse genetic causes of polymicrogyria with epilepsy
Epilepsy Phenome/Genome Project, E. C. (2021) · Epilepsia · doi:10.1111/epi.16854 · Cited by 31
Acute encephalopathy with a novel point mutation in the SCN2A gene
Kobayashi, K., Ohzono, H., Shinohara, M., Saitoh, M., Ohmori, I., Ohtsuka, Y., & Mizuguchi, M. (2012) · Epilepsy Research · doi:10.1016/j.eplepsyres.2012.04.016 · Cited by 32
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings
Zerem, A., Lev, D., Blumkin, L., Goldberg‐Stern, H., Michaeli-Yossef, Y., Halevy, A., Kivity, S., Nakamura, K., Matsumoto, N., Leshinsky‐Silver, E., et al. (2014) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2014.04.008 · Cited by 31
Kwong, A. K., Ho, A. C.-C., Fung, C., & Wong, V. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0126446 · Cited by 29
The Molecular Biology of Genetic-Based Epilepsies
Deng, H., Xiu, X., & Song, Z. Q. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8523-6 · Cited by 29
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
Lyu, H., Boßelmann, C. M., Johannesen, K. M., Koko, M., Ortigoza‐Escobar, J. D., Aguilera, S., García‐Navas, D., Linnankivi, T., Gaily, E. K., van Ruiten, H. J. A., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104855 · Cited by 28
Differential distribution of voltage-gated ion channels in cortical neurons
Child, N. D., & Benarroch, E. E. (2014) · Neurology · doi:10.1212/wnl.0000000000000228 · Cited by 29
Bernardo, S., Marchionni, E., Prudente, S., Liso, P. D., Spalice, A., Giancotti, A., Manganaro, L., & Pizzuti, A. (2017) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2017.01.014 · Cited by 27
Excitatory and inhibitory neuron defects in a mouse model of Scn1b‐linked EIEE52
Hull, J. M., O’Malley, H. A., Chen, C., Yuan, Y., Denomme, N., Bouza, A. A., Anumonwo, C., Lopez‐Santiago, L. F., & Isom, L. L. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51205 · Cited by 28
The phenotype and treatment of SCN2A ‐related developmental and epileptic encephalopathy
Kim, H. J., Yang, D., Kim, S. H., Kim, B., Kim, H. D., Lee, J. S., Choi, J. R., Lee, S., & Kang, H. (2020) · Epileptic Disorders · doi:10.1684/epd.2020.1199 · Cited by 27
Bartnik, M., Tsai, A. C., Xia, Z., Cheung, S., & Stankiewicz, P. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01526.x · Cited by 28
Next-Generation Sequencing in Autism Spectrum DisorderPreprint
Sanders, S. (2018) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a026872 · Cited by 30
Metadata
- Authors
- Ogiwara, I., Ito, K., Sawaishi, Y., Osaka, H., Mazaki, E., Inoue, I., Montal, M., Hashikawa, T., Shike, T., Fujiwara, T., Inoue, Y., Kaneda, M., & Yamakawa, K.
- Affiliations
- Akita University (JP)
- Venue
- Neurology
- Published
- 2009-09-29
- Volume
- 73
- Issue
- 13
- Pages
- 1046-1053
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2754324
- OpenAlex
- W2061682874
- Cited by
- 205
- References
- 30
- Citations by year
- 2026: 8 · 2025: 4 · 2024: 5 · 2023: 10 · 2022: 8 · 2021: 16 · 2020: 14 · 2019: 18 · 2018: 14 · 2017: 15 · 2016: 12 · 2015: 18 · 2014: 21 · 2013: 14 · 2012: 11
- FWCI
- 5.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- Fukuoka University
- Hirosaki University
- National Institutes of Health
- RIKEN
- National Institute of General Medical Sciences (GM-49711, R01GM049711)
- RIKEN Brain Science Institute
- 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 › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- SCN2A, de novo mutations, drug-resistant epilepsy, infantile spasms, Dravet syndrome, neonatal epileptic encephalopathy, voltage dependence of activation, channel inactivation, recovery from inactivation, genotype-phenotype correlation
- MeSH terms
- Amino Acid Sequence, Cell Line, DNA Mutational Analysis, Epilepsies, Myoclonic, Female, Haplotypes, Humans, Infant, Newborn, Kidney, Male, Nerve Tissue Proteins, Severity of Illness Index, Spasms, Infantile, Transfection, Sodium Channels, Conserved Sequence, Protein Structure, Tertiary, Fatal Outcome, Patch-Clamp Techniques, Mutation, Missense, Young Adult, NAV1.2 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
