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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.
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“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
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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
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“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
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Meisler, M. H. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25466 · Cited by 512
Molecular targets for antiepileptic drug development
Meldrum, B., & Rogawski, M. (2011) · Neurotherapeutics · doi:10.1016/j.nurt.2006.11.010 · Cited by 454
Catterall, W. A., Kalume, F., & Oakley, J. C. (2010) · The Journal of Physiology · doi:10.1113/jphysiol.2010.187484 · Cited by 428
“1 channels (Claes et al. 2001; Ohmori et al. 2002; Sugawara et al. 2002; Claes et al. 2003; Fujiwara et al. 2003; Fukuma et al. 2004).”
Inherited disorders of voltage-gated sodium channels
George, A. L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25505 · Cited by 365
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Oyrer, J., Maljevic, S., Scheffer, I. E., Berkovic, S. F., Petrou, S., & Reid, C. A. (2018) · Pharmacological Reviews · doi:10.1124/pr.117.014456 · Cited by 315
“protein truncation with deletions of whole exons, multiple exons, or, more rarely, the whole gene (Claes et al., 2001; Ohmori et al., 2002, 2006; Fujiwara et al., 2003; Nabbout et al., 2003; Kearney et al., 2006; Madia et al., 2006; Mulley et al., 2006; Suls et al., 2006; Marini et al., 2011).”
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“On the other hand, high detection rates were seen in both Belgian [Claes et al., 2001, 2003] and Japanese populations [Ohmori et al., 2002; Sugawara et al., 2002; Fujiwara et al., 2003].”
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Navigating the channels and beyond: unravelling the genetics of the epilepsies
Helbig, I., Scheffer, I. E., Mulley, J. C., & Berkovic, S. F. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70039-5 · Cited by 281
The genetics of Dravet syndrome
Marini, C., Scheffer, I. E., Nabbout, R., Suls, A., Jonghe, P. D., Zara, F., & Guerrini, R. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02997.x · Cited by 276
“The identification of SCN1A mutations in similar proportions of classical DS, SMEB, ICEGTC, and SIMFE patients (Fujiwara et al., 2003; Harkin et al., 2007) confirms that these phenotypes share the same genetic determinant in the majority of patients.”
BackgroundInfluentialSingh, N. A., Pappas, C. M., Dahle, E. J., Claes, L. R. F., Pruess, T. H., Jonghe, P. D., Thompson, J., Dixon, M., Gurnett, C. A., Peiffer, A. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000649 · Cited by 264
“mutations yet belong to families with a history of FS”
BackgroundPersistent Sodium Current and Its Role in Epilepsy
Stafstrom, C. E. (2007) · Epiliepsy currents/Epilepsy currents · doi:10.1111/j.1535-7511.2007.00156.x · Cited by 249
“and missense mutations, endowing the latter syndrome with a more severe phenotype (57,58).”
BackgroundInherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases
Catterall, W. A., Dib-Hajj, S., Meisler, M. H., & Pietrobon, D. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.3901-08.2008 · Cited by 237
“1 channels (Claes et al., 2001; Ohmori et al., 2002; Fujiwara et al., 2003).”
Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A
Lossin, C., Rhodes, T. H., Desai, R. R., Vanoye, C. G., Dao, W., Carniciu, S., Devinsky, O., & George, A. L. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-36-11289.2003 · Cited by 215
“, 2002) and more deleterious alleles (nonsense, frameshift) representing the majority of SMEI mutations (Claes et al., 2001; Sugawara et al., 2001a; Ohmori et al., 2002; Fujiwara et al., 2003; Nabbout et al., 2003).”
BackgroundMechanisms of human inherited epilepsies
Reid, C. A., Berkovic, S. F., & Petrou, S. (2008) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2008.09.016 · Cited by 207
De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies
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“A patient with V1611F was originally reported as having intractable childhood epilepsy with generalized tonic–clonic seizures [Fujiwara et al., 2003].”
BackgroundKamiya, K., Kaneda, M., Sugawara, T., Mazaki, E., Okamura, N., Montal, M., Makita, N., Tanaka, M., Fukushima, K., Fujiwara, T., et al. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.3089-03.2004 · Cited by 199
“In contrast to GEFSϩ , a pre - ponderance of SMEI mutations are truncation mutations ( Claes et al .”
BackgroundMethodInfluentialSelf-citationBaulac, S., Gourfinkel‐An, I., Nabbout, R., Huberfeld, G., Serratosa, J. M., Leguern, É., & Baulac, M. (2004) · The Lancet Neurology · doi:10.1016/s1474-4422(04)00808-7 · Cited by 196
Lossin, C. (2008) · Brain and Development · doi:10.1016/j.braindev.2008.07.011 · Cited by 195
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
A long‐term follow‐up study of Dravet syndrome up to adulthood
Akiyama, M., Kobayashi, K., Yoshinaga, H., & Ohtsuka, Y. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2009.02466.x · Cited by 192
“Typical and borderline DS are considered to have genetic continuity because both types have high rates of SCN1A mutations (Fujiwara et al., 2003; Ohmori et al., 2003; Fukuma et al., 2004; Oguni et al., 2005; Fujiwara, 2006).”
BackgroundSodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
Wallace, R. H., Hodgson, B. L., Grinton, B. E., Gardiner, R. M., Robinson, R. A., Rodriguez‐Casero, V., Sadleir, L. G., Morgan, J. P., Harkin, L. A., Dibbens, L. M., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000086379.71183.78 · Cited by 190
Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders
Rossignol, E. (2011) · Neural Plasticity · doi:10.1155/2011/649325 · Cited by 192
Fukuma, G., Oguni, H., Shirasaka, Y., Watanabe, K., Miyajima, T., Yasumoto, S., Ohfu, M., Inoue, T., Watanachai, A., Kira, R., et al. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.15103.x · Cited by 186
Trudeau, M., Dalton, J. C., Day, J., Ranum, L. P. W., & Meisler, M. H. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.035667 · Cited by 187
“Severe myoclonic epilepsy of infancy (OMIM 607208) results from haploinsufficiency of SCN1A in patients who are heterozygous for null mutations [15-17].”
BackgroundOgiwara, I., Iwasato, T., Miyamoto, H., Iwata, R., Yamagata, T., Mazaki, E., Yanagawa, Y., Tamamaki, N., Hensch, T. K., Itohara, S., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt331 · Cited by 185
The Perineuronal ‘Safety’ Net? Perineuronal Net Abnormalities in Neurological Disorders
Wen, T. H., Binder, D. K., Ethell, I. M., & Razak, K. A. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00270 · Cited by 170
“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).”
BackgroundDravet syndrome (severe myoclonic epilepsy in infancy)
Dravet, C., & Oguni, H. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52891-9.00065-8 · Cited by 180
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities
Marini, C., Mei, D., Temudo, T. P., Ferrari, A. R., Buti, D., Dravet, C., Dias, A. I., Moreira, A., Calado, E., Seri, S., et al. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01122.x · Cited by 175
“( Claes et al., 2001; Ohmori et al., 2002; Fujiwara et al., 2003; Nabbout et al., 2003; Sugawara et al., 2002; Wallace et al., 2003).”
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
Rhodes, T. H., Lossin, C., Vanoye, C. G., Wang, D. W., & George, A. L. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402482101 · Cited by 175
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer, I. E., Zhang, Y.-H., Jansen, F. E., & Dibbens, L. M. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.01.001 · Cited by 168
Axonal ion channels from bench to bedside: A translational neuroscience perspective
Krishnan, A. V., Lin, C. S.-Y., Park, S. B., & Kiernan, M. C. (2009) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2009.08.002 · Cited by 158
Spampanato, J. G., Kearney, J. A., de Haan, G., McEwen, D. P., Escayg, A., Aradi, I., MacDonald, B. T., Levin, S. I., Soltész, I., Benna, P., et al. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.2034-04.2004 · Cited by 159
“…in families with GEFS in 2000, 10 additional mutations have been described, accounting for the disease in 50% of families studied (Escayg et al., 2000, 2001; Abou-Khalil et al., 2001; Sugawara et al., 2001; Wallace et al., 2001; Annesi et al., 2003; Fujiwara et al., 2003; Lossin et al., 2003).”
BackgroundMechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
Depienne, C., Trouillard, O., Gourfinkel‐An, I., Saint‐Martin, C., Bouteiller, D., Graber, D., Barthez‐Carpentier, M., Gautier, A., Villeneuve, N., Dravet, C., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.074328 · Cited by 157
Zakon, H. H., Lu, Y. C., Zwickl, D. J., & Hillis, D. M. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600160103 · Cited by 157
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
D’Gama, A. M., Pochareddy, S., Li, M., Jamuar, S. S., Rodin, R. E., Lam, A.-T. N., Šestan, N., & Walsh, C. A. (2015) · Neuron · doi:10.1016/j.neuron.2015.11.009 · Cited by 153
“5278 F 15 Drowning, seizure disorder CACNA1H Ms, SCN1A LOF Epilepsy susceptibility; Dravet syndrome, GEFSP2, FEB3A (Fujiwara et al., 2003; Depienne et al., 2010; Allen et al., 2013) Progressed from febrile seizures in infancy to nonfebrile and generalized tonic-clonic seizures”
BackgroundInfluentialRecent advances in the molecular genetics of epilepsy
Hildebrand, M. S., Dahl, H. M., Damiano, J. A., Smith, R. J. H., Scheffer, I. E., & Berkovic, S. F. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101448 · Cited by 148
Dravet syndrome: a sodium channel interneuronopathy
Catterall, W. A. (2018) · Current Opinion in Physiology · doi:10.1016/j.cophys.2017.12.007 · Cited by 148
The genetics of human epilepsy
Scheffer, I. E., & Berkovic, S. F. (2003) · Trends in Pharmacological Sciences · doi:10.1016/s0165-6147(03)00194-9 · Cited by 141
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
“Generalized epilepsy with febrile seizures plus (GEFS+); Febrile seizures (FS); Febrile seizures plus (FS+); Lennox-Gastaut syndrome (LGS); Dravet syndrome (DS); Borderline severe myoclonic epilepsy (SMEB); Severe myoclonic epilepsy (SME); Familial hemiplegic migraine (FHM); Partial epilepsy with antecedent FS (PEFS+)…”
BackgroundInfluentialSodium 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
Correspondence between Resting-State Activity and Brain Gene Expression
Wang, G.-Z., Belgard, T. G., Mao, D., Chen, L., Berto, S., Preuss, T. M., Lu, H., Geschwind, D. H., & Konopka, G. (2015) · Neuron · doi:10.1016/j.neuron.2015.10.022 · Cited by 129
Genetic mechanisms in idiopathic epilepsies
Weber, Y. G., & Lerche, H. (2008) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2008.03058.x · Cited by 130
“Another similar severe epilepsy syndrome of childhood is intractable childhood epilepsy with generalized tonic–clonic seizures (ICEGTC).(28) Onset and clinical course including learning disability are as in SMEI, except that myoclonic seizures do not occur.”
BackgroundKullmann, D. M. (2010) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153122 · Cited by 133
“Idiopathic childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) is a disorder of intermediate severity that can also be caused by missense SCN1A mutations (Fujiwara et al. 2003).”
BackgroundTheSCN1Avariant database: a novel research and diagnostic tool
Claes, G. R. F., Deprez, L., Suls, A., Baets, J., Smets, K., Dyck, T. V., Deconinck, T., Jordanova, A., & Jonghe, P. D. (2009) · Human Mutation · doi:10.1002/humu.21083 · Cited by 128
“Also, other phenotypes like intractable childhood epilespsy with generalized tonic clonic seizures (ICEGTC) (Fujiwara et al., 2003), severe idiopathic epilepsy of infancy (SIGEI) (Ebach et al., 2005) and severe infantile multifocal epilepsy (SIMFE) (Harkin et al., 2007) resemble SMEI.”
BackgroundInfluentialArnegard, M. E., Zwickl, D. J., Lu, Y., & Zakon, H. H. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011803107 · Cited by 126
Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials
Li, W., Schneider, A. L., & Scheffer, I. E. (2021) · Epilepsia · doi:10.1111/epi.17015 · Cited by 123
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
“sodium currents in the brain, three of them (SCN1A, SCN2A, SCN3A) are associated with a variety of epilepsies [1–3].”
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
Kanai, K., Hirose, S., Oguni, H., Fukuma, G., Shirasaka, Y., Miyajima, T., Wada, K., Iwasa, H., Yasumoto, S., Matsuo, M., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000129829.31179.5b · Cited by 121
Genetic neurological channelopathies: molecular genetics and clinical phenotypes
Spillane, J. E., Kullmann, D. M., & Hanna, M. G. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2015-311233 · Cited by 116
Subtype‐selective targeting of voltage‐gated sodium channels
England, S., & de Groot, M. J. (2009) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2009.00437.x · Cited by 118
“1 channel (Fujiwara et al., 2003).”
Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients
Suls, A., Claeys, K. G., Goossens, D., Harding, B., van Luijk, R., Scheers, S., Deprez, L., Audenaert, D., Dyck, T. V., Beeckmans, S., et al. (2006) · Human Mutation · doi:10.1002/humu.20350 · Cited by 114
“Mutation analysis of SCN1A using PCR-based sequencing has identified point mutations, small deletions, and insertions that were mostly de novo in about 30 to 70% of SMEI patients [Claes et al., 2001, 2003; Sugawara et al., 2002; Ohmori et al., 2002; Fujiwara et al., 2003; Gennaro et al., 2003; Nabbout et al., 2003; Wa…”
BackgroundMethodNav1.2 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
Stiripentol open study in Japanese patients with Dravet syndrome
Inoue, Y., Ohtsuka, Y., Oguni, H., Tohyama, J., Baba, H., Fukushima, K., Ohtani, H., Takahashi, Y., & Ikeda, S. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02179.x · Cited by 113
“De novo mutation in the neuronal sodium channel alpha subunit SCN1A is a major cause of this syndrome (Fujiwara et al., 2003).”
BackgroundIto, S., Ogiwara, I., Yamada, K., Miyamoto, H., Hensch, T. K., Ōsawa, M., & Yamakawa, K. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.08.003 · Cited by 113
“1 (Claes et al., 2001; Depienne et al., 2009; Fujiwara et al., 2003; Harkin et al., 2007; Nakayama et al., 2010; Sugawara et al., 2002).”
Epileptic Encephalopathies: New Genes and New Pathways
Nieh, S. E., & Sherr, E. H. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0301-2 · Cited by 115
“Approximately half of SCN1A mutations are truncations, and most DS SCN1A mutations appear to arise de novo [78-81].”
BackgroundSomatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy
Gennaro, E., Santorelli, F. M., Bertini, E., Buti, D., Gaggero, R., Gobbi, G., Lini, M., Granata, T., Freri, E., Parmeggiani, A., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.12.209 · Cited by 108
Depienne, C., Arzimanoglou, A. A., Trouillard, O., Fédirko, E., Baulac, S., Saint‐Martin, C., Ruberg, M., Dravet, C., Nabbout, R., Baulac, M., et al. (2006) · Human Mutation · doi:10.1002/humu.9419 · Cited by 106
“Dravet Syndrome is mostly found in sporadic patients (90% of cases), 40-80% of whom have de novo mutations in SCN1A [ Sugawara et al. 2002; Fujiwara et al. 2003; Claes et al. 2003; Nabbout et al. 2003].”
BackgroundLakhan, R., Kumari, R., Misra, U. K., Kalita, J., Pradhan, S., & Mittal, B. (2009) · British Journal of Clinical Pharmacology · doi:10.1111/j.1365-2125.2009.03437.x · Cited by 104
Benign familial neonatal convulsions: Always benign?
Steinlein, O. K., Conrad, C., & Weidner, B. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2006.10.010 · Cited by 100
Tang, B., Dutt, K., Papale, L. A., Rusconi, R., Shankar, A., Hunter, J. E., Tufik, S., Yu, F. H., Catterall, W. A., Mantegazza, M., et al. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.04.007 · Cited by 101
“…Epilepsy of Infancy (SMEI or Dravet Syndrome, MIM 607208) (Escayg et al., 2000, Escayg et al., 2001, Claes et al., 2001, Ohmori et al., 2003, Fujiwara et al., 2003, Wallace et al., 2001, Wallace et al., 2003, Sugawara et al., 2001, Nagao et al., 2005, Mantegazza et al., 2005, Annesi et al.,…”
Ion Channel Defects in Idiopathic Epilepsies
Lerche, H., Weber, Y. G., Jurkat‐Rott, K., & Lehmann‐Horn, F. (2005) · Current Pharmaceutical Design · doi:10.2174/1381612054546815 · Cited by 99
Co‐occurring malformations of cortical development and SCN 1A gene mutations
Barba, C., Parrini, E., Coras, R., Galuppi, A., Craiu, D., Kluger, G. J., Parmeggiani, A., Pieper, T., Schmitt‐Mechelke, T., Striano, P., et al. (2014) · Epilepsia · doi:10.1111/epi.12658 · Cited by 99
Dravet syndrome: A study of 53 patients
Caraballo, R. H., & Fejerman, N. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2005.11.026 · Cited by 96
An Epilepsy Mutation in the Sodium ChannelSCN1AThat Decreases Channel Excitability
Barela, A. J., Waddy, S. P., Lickfett, J., Hunter, J. E., Anido, A., Helmers, S. L., Goldin, A. L., & Escayg, A. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2977-05.2006 · Cited by 94
“In contrast, most SCN1A mutations that have been identified in SMEI are predicted to result in null alleles or reduced protein levels (Claes et al., 2001, 2003; Sugawara et al., 2001b; Ohmori et al., 2002; Fujiwara et al., 2003; Nabbout et al., 2003; Wallace et al., 2003).”
BackgroundCastro, M., Stam, A., Lemos, C., de Vries, B., Vanmolkot, K. R. J., Barros, J., Terwindt, G. M., Frants, R. R., Sequeiros, J., Ferrari, M. D., et al. (2008) · Cephalalgia · doi:10.1111/j.1468-2982.2008.01721.x · Cited by 93
Guerrini, R., & Aicardi, J. F. (2003) · Journal of Clinical Neurophysiology · doi:10.1097/00004691-200311000-00007 · Cited by 92
“Japanese groups found a mutation rate of 77% to 82% (Fujiwara et al., 2003; Ohmori et al., 2002; Sugawara et al., 2002).”
BackgroundHow do mutant Nav1.1 sodium channels cause epilepsy?
Ragsdale, D. S. (2008) · Brain Research Reviews · doi:10.1016/j.brainresrev.2008.01.003 · Cited by 92
“…small deletion and insertions in SCN1A in 70–80% of SMEI patients (Claes et al., 2001, 2003; Sugawara et al., 2002; Ohmori et al., 2002, 2006; Fujiwara et al., 2003; Gennaro et al., 2003; Nabout et al., 2003; Wallace et al., 2003; Ceulemans et al., 2004; Fukuma et al., 2004; Mulley et al.,…”
Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype
Waxman, S. G. (2007) · Nature Neuroscience · doi:10.1038/nn1857 · Cited by 88
“However, other inherited epilepsies have been linked to nonsense mutations in sodium channel genes that prevent them from producing functional channel”
BackgroundThe SCN1A gene variants and epileptic encephalopathies
Parihar, R., & Ganesh, S. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.77 · Cited by 88
Dravet Syndrome (Severe Myoclonic Epilepsy in Infancy): A Retrospective Study of 16 Patients
Korff, C. M., Laux, L., Kelley, K. R., Goldstein, J. L., Koh, S., & Nordli, D. R. (2007) · Journal of Child Neurology · doi:10.1177/0883073807300294 · Cited by 87
Clinical spectrum of SCN1A mutations
Gambardella, A., & Marini, C. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02115.x · Cited by 87
“The severity may also be explained by the position of these mutations, as there seems to be an association between SMEI and missense mutations in the pore region (Fujiwara et al., 2003; Kanai et al., 2004).”
BackgroundMethodInfluentialTwo cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation
Hindocha, N., Nashef, L. A. M., Elmslie, F., Birch, R. C., Zuberi, S. M., Al‐Chalabi, A., Crotti, L., Schwartz, P. J., & MAKOFF, A. J. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2007.01439_2.x · Cited by 83
“SCN1A is also implicated in autosomal dominant febrile seizures (FEB3) (Mantegazza et al., 2005), intractable childhood epilepsy with generalized tonic–clonic seizures (Fujiwara et al., 2003) and familial hemiplegic migraine (Dichgans et al., 2005; Vanmolkot et al., 2007).”
BackgroundLong‐term course of D ravet syndrome: A study from an epilepsy center in J apan
Takayama, R., Fujiwara, T., Shigematsu, H., Imai, K., Takahashi, Y., Yamakawa, K., & Inoue, Y. (2014) · Epilepsia · doi:10.1111/epi.12532 · Cited by 83
Sodium Channel Blockers for the Treatment of Neuropathic Pain
Bhattacharya, A., Wickenden, A. D., & Chaplan, S. R. (2009) · Neurotherapeutics · doi:10.1016/j.nurt.2009.08.001 · Cited by 82
Hirose, S. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2005.12.007 · Cited by 82
Fujiwara, T. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2006.01.019 · Cited by 80
Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy
Marini, C., Mei, D., Cross, J. H., & Guerrini, R. (2006) · Epilepsia · doi:10.1111/j.1528-1167.2006.00675.x · Cited by 79
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
Sugawara, T., Tsurubuchi, Y., Fujiwara, T., Mazaki-Miyazaki, E., Nagata, K., Montal, M., Inoue, Y., & Yamakawa, K. (2003) · Epilepsy Research · doi:10.1016/s0920-1211(03)00084-6 · Cited by 79
Genetics of Idiopathic Epilepsies
Hirose, S., Mitsudome, A., Okada, M., Kaneko, S., & The Epilepsy Genetic Study Group, J. (2005) · Epilepsia · doi:10.1111/j.0013-9580.2005.461011.x · Cited by 78
The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review
Sullivan, J. E., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B. S., Gofshteyn, J. S., James, E. S., Rico, S., & Zuberi, S. M. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108661 · Cited by 76
Moving gating charges through the gating pore in a Kv channel voltage sensor
Lacroix, J. J., Hyde, H. C., Campos, F. V., & Bezanilla, F. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1406161111 · Cited by 77
SCN1A testing for epilepsy: Application in clinical practice
Hirose, S., Scheffer, I. E., Marini, C., Jonghe, P. D., Andermann, E., Goldman, A. M., Kauffman, M. A., Tan, N. C., Lowenstein, D. H., Sisodiya, S. M., et al. (2013) · Epilepsia · doi:10.1111/epi.12168 · Cited by 75
“These include severe infantile multifocal epilepsy (SIMFE) (Harkin et al., 2007) and intractable childhood epilepsies with frequent generalized tonic–clonic seizures (Fujiwara et al., 2003).”
BackgroundSolution NMR Structure of the C-terminal EF-hand Domain of Human Cardiac Sodium Channel NaV1.5
Chagot, B., Potet, F., Balser, J. R., & Chazin, W. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m807747200 · Cited by 74
Sakauchi, M., Oguni, H., Kato, I., Osawa, M., Hirose, S., Kaneko, S., Takahashi, Y., Takayama, R., & Fujiwara, T. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03053.x · Cited by 80
“…on the following items for each patient: (1) gender; (2) age at the onset of epilepsy (in months); (3) clinical type (typical or borderline groups) (Fujiwara et al., 2003; Oguni et al., 2005); (4) presence or absence of an SCN1A gene test and its results; (5) age at death; (6) Causes of mortality;…”
BackgroundMortality in Dravet syndrome: Search for risk factors in Japanese patients
Sakauchi, M., Oguni, H., Kato, I., Ōsawa, M., Hirose, S., Kaneko, S., Takahashi, Y., Takayama, R., & Fujiwara, T. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03002.x · Cited by 74
“Of the 59 patients, 20 comprised the borderline group without myoclonic or atypical absence seizures, and 39 comprised the typical group (Fujiwara et al., 2003; Oguni et al., 2005).”
BackgroundSodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures
Rhodes, T. H., Vanoye, C. G., Ohmori, I., Ogiwara, I., Yamakawa, K., & George, A. L. (2005) · The Journal of Physiology · doi:10.1113/jphysiol.2005.094326 · Cited by 72
“All mutations were originally identified in Japanese ICEGTC probands and were reported by Fujiwara et al. (2003).”
BackgroundInfluentialMolecular genetics of Dravet syndrome
Jonghe, P. D. (2011) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2011.03965.x · Cited by 71
“SOME INTRIGUING QUESTIONS GET SOLVED The observation that SCN1A mutations are the major cause of Dravet syndrome provided the tools for tackling some of the remaining intriguing questions: Are borderline SMEI and clinically similar syndromes really related to Dravet syndrome? How can the occasional occurrence of affec…”
BackgroundIshii, A., Watkins, J. C., Chen, D., Hirose, S., & Hammer, M. F. (2016) · Epilepsia · doi:10.1111/epi.13639 · Cited by 71
Bonanni, P., Malcarne, M., Moro, F., Veggiotti, P., Buti, D., Ferrari, A. R., Parrini, E., Mei, D., Volzone, A., Zara, F., et al. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.04303.x · Cited by 70
Spampanato, J. G., Aradi, I., Soltész, I., & Goldin, A. L. (2004) · Journal of Neurophysiology · doi:10.1152/jn.00982.2003 · Cited by 68
SCN1AMutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy
Morimoto, M., Mazaki, E., Nishimura, A., Chiyonobu, T., Sawai, Y., Murakami, A., Nakamura, K., Inoue, I., Ogiwara, I., Sugimoto, T., et al. (2006) · Epilepsia · doi:10.1111/j.1528-1167.2006.00645.x · Cited by 67
“Almost all the mutations reported in GEFS+ were missense types, whereas two thirds of the SCN1A mutations found in SMEI patients are of the truncation type, including nonsense and frameshift mutations, and only one third are missense types (Fujiwara et al., 2003).”
BackgroundMethodInfluentialGalanopoulou, A. S., & Moshé, S. L. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.04.015 · Cited by 65
“…or SCN1B, rarely the γ2 subunit of GABAA receptors (GABRG2), while a Dravet syndrome-like phenotype was linked with protocadherin PCDH19 mutations (Claes et al., 2001; Fujiwara et al., 2003; Marini et al., 2011; Nabbout et al., 2003; Ohmori et al., 2002; Patino et al., 2009; Sugawara et al., 2002).”
BackgroundNaChBac: The Long Lost Sodium Channel Ancestor
Charalambous, K., & Wallace, B. A. (2011) · Biochemistry · doi:10.1021/bi200942y · Cited by 64
Genes and mutations in human idiopathic epilepsy
Steinlein, O. K. (2003) · Brain and Development · doi:10.1016/s0387-7604(03)00149-9 · Cited by 64
Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle
Bainbridge, M. N., Cooney, E., Miller, M. J., Kennedy, A. D., Wulff, J. E., Donti, T., Jhangiani, S. N., Gibbs, R. A., Elsea, S. H., Porter, B. E., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.06.009 · Cited by 63
“1046/j.1528-1157.2001.042suppl.3023.x. [3] T. Fujiwara, T. Sugawara, E. Mazaki-Miyazaki, Y. Takahashi, K. Fukushima, M. Watanabe, K. Hara, T. Morikawa, K. Yagi, K. Yamakawa, Y. Inoue, Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic sei…”
Influential
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
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