Cited by 345Epilepsy research and treatmentIon channel regulation and functionPharmacological Effects and Toxicity Studies

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

Fujiwara, T.·2003·Brain

DOI 10.1093/brain/awg053

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1093/brain/awg053

Cites

32 of 32 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

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
Untitled work
(2005) · Cited by 944
Epilepsy in children
Guerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
Scheffer, I. E. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 758
Advances in epileptology
Hughes, J. R. (1990) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(90)90063-p · Cited by 503
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
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
A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy
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

Flagged first, then by citations

Show all 32 references

Sorted by citations

Items 101–200 of 344

Genes and loci involved in febrile seizures and related epilepsy syndromes
Audenaert, D., Broeckhoven, C. V., & Jonghe, P. D. (2006) · Human Mutation · doi:10.1002/humu.20279 · Cited by 63
Diagnosis and long-term course of Dravet syndrome
Scheffer, I. E. (2012) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2012.04.007 · Cited by 62
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
“None showed any SCN1A mutations in prior sequence analyses of all 26 coding exons and exon–intron boundaries [Fujiwara et al., 2003; Ogiwara et al., 2009; Sugawara et al., 2002].”
BackgroundInfluential
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current
Schutte, R. J., Schutte, S. S., Algara, J., Barragan, E. V., Gilligan, J., Staber, C. J., Savva, Y. A., Smith, M. A., Reenan, R. A., & O’Dowd, D. K. (2014) · Journal of Neurophysiology · doi:10.1152/jn.00135.2014 · Cited by 63
“Although both of these are disorders in which individuals exhibit febrile and afebrile seizures, DS is a more severe disorder than GEFS (Abou-Khalil et al. 2001; Dravet 2011; Fujiwara et al. 2003; Scheffer and Berkovic 1997).”
Background
Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Scheffer, I. E., Harkin, L. A., Dibbens, L. M., Mulley, J. C., & Berkovic, S. F. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.00358.x · Cited by 59
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain
Andrade, D. M. (2009) · Human Genetics · doi:10.1007/s00439-009-0702-1 · Cited by 59
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A. S., Feng, Y. A., Howrigan, D. P., Abbott, L. E., Tashman, K. C., Cerrato, F. E., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.04.009 · Cited by 56
Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy
Kearney, J. A., Wiste, A. K., Stephani, U., Trudeau, M., Siegel, A., RamachandranNair, R., Elterman, R. D., Muhle, H., Reinsdorf, J., Shields, W. D., et al. (2006) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2005.07.009 · Cited by 57
“A mutation in an adjacent nucleotide of the same codon is responsible for the missense mutation S1231R in a Japanese patient with severe myoclonic epilepsy of infancy [ 10 ].”
Background
Single-channel Properties of Human NaV1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy
Vanoye, C. G., Lossin, C., Rhodes, T. H., & George, A. L. (2005) · The Journal of General Physiology · doi:10.1085/jgp.200509373 · Cited by 57
“…genes encoding neuronal voltage-gated sodium channel subunits ( SCN1A and SCN2A ) and the accessory 1 subunit ( SCN1B ) have been linked to inherited forms of epilepsy (Wallace et al., 1998; Escayg et al., 2000; Sugawara et al., 2001; Claes et al., 2001; Heron et al., 2002; Fujiwara et al., 2003).”
Two Novel SCN1A Missense Mutations in Generalized Epilepsy with Febrile Seizures Plus
Annesi, G., Gambardella, A., Carrideo, S., Incorpora, G., Labate, A., Pasqua, A. A., Civitelli, D., Polizzi, A., Annesi, F., Spadafora, P., et al. (2003) · Epilepsia · doi:10.1046/j.1528-1157.2003.22503.x · Cited by 57
Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models
Guerrini, R., Marini, C., & Mantegazza, M. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0267-0 · Cited by 57
TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model
Shao, E., Chang, C.-W., Li, Z., Yu, X., Ho, K., Zhang, M., Wang, X., Simms, J., Lo, I., Speckart, J., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abm5527 · Cited by 54
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
Kimura, K., Sugawara, T., Mazaki-Miyazaki, E., Hoshino, K., Nomura, Y., Tateno, A., Hachimori, K., Yamakawa, K., & Segawa, M. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.11.005 · Cited by 54
Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy
Skjei, K. L., Church, E. W., Harding, B. N., Santi, M., Holland‐Bouley, K. D., Clancy, R. R., Porter, B. E., Heuer, G. G., & Marsh, E. D. (2015) · Journal of Neurosurgery Pediatrics · doi:10.3171/2015.5.peds14551 · Cited by 53
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients withSCN1AMutations
Mancardi, M. M., Striano, P., Gennaro, E., Madia, F., Paravidino, R., Scapolan, S., Bernardina, B. D., Bertini, E., Bianchi, A., Capovilla, G., et al. (2006) · Epilepsia · doi:10.1111/j.1528-1167.2006.00641.x · Cited by 53
“…mild epileptic phenotypes (Gennaro et al., 2003; Nabbout et al., 2003; Fukuma et al., 2004; Kimura et al., 2005) led to the hypothesis that additional inherited genetic factors could influence the familial epileptic background and modulate the expression of SCN1A mutations (Fujiwara et al., 2003).”
Background
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1
Liao, W., Shi, Y., Long, Y., Zeng, Y., Li, T., Yu, M.-J., Su, T., Deng, P., Lei, Z., Xu, S., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02645.x · Cited by 52
“The phenotype definitions are as in previous reports (Scheffer & Berkovic, 1997; Singh et al., 1999; Fujiwara et al., 2003), with the exception of PEFS+.”
MethodResult
Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells
Tatsukawa, T., Ogiwara, I., Mazaki, E., Shimohata, A., & Yamakawa, K. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.01.009 · Cited by 47
“1 (Claes et al., 2001; Sugawara et al., 2002; Fujiwara et al., 2003; Mulley et al., 2006; Harkin et al., 2007; Depienne et al., 2009; Nakayama et al., 2010; Meng et al., 2015).”
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
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases
Davidsson, J., Collin, A., Olsson, M. E., Lundgren, J., & Soller, M. (2008) · Epilepsy Research · doi:10.1016/j.eplepsyres.2008.04.018 · Cited by 51
Solution Structure of the NaV1.2 C-terminal EF-hand Domain
Miloushev, V. Z., Levine, J. A., Arbing, M. A., Hunt, J. F., Pitt, G. S., & Palmer, A. G. I. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m807401200 · Cited by 49
Anticonvulsant effect of (±) citronellal possibly through the GABAergic and voltage-gated sodium channel receptor interaction pathways: In vivo and in silico studies
Chowdhury, R., Bhuia, M. S., Hasan, M. S. A., Ansari, S. A., Ansari, I. A., Gurgel, A. P. A. D., Coutinho, H. D. M., & Islam, M. T. (2024) · Neurochemistry International · doi:10.1016/j.neuint.2024.105704 · Cited by 48
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
Orrico, A., Galli, L., Grosso, S., Buoni, S., Pianigiani, R., Balestri, P., & Sorrentino, V. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01155.x · Cited by 47
“The neuronal voltage-gated sodium channel alpha subunit (SCN1A), the voltage-gated sodium channel beta 1 subunit (SCN1B) and the gamma-aminobutyric acid A receptor gamma 2 subunit (GABRG2) genes have been reported to be mutated in a large spectrum of diseases ranging from severe myoclonic epilepsy in infancy (SMEI or…”
Background
Cryptogenic Epileptic Syndromes Related to SCN1A
Zucca, C., Redaelli, F. C., Epifanio, R., Zanotta, N., Romeo, A., Lodi, M. A. M., Veggiotti, P., Airoldi, G., Panzeri, C., Romaniello, R., et al. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.489 · Cited by 45
A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus
Livingston, J. H., Cross, J. H., McLellan, A. E., Birch, R. C., & Zuberi, S. M. (2009) · Journal of Child Neurology · doi:10.1177/0883073808324537 · Cited by 46
“Intractable childhood epilepsy with generalized tonic clonic seizures is regarded by many authors as a subtype of severe myoclonic epilepsy of infancy borderline which, in turn, is a part of the Dravet syndrome spectrum.(3,13,29) The subsequent development of temporal lobe epilepsy and hippocampal sclerosis in case 3…”
Background
Electroclinical Features of a Family with Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Loss‐of‐Function Mutation
Colosimo, E., Gambardella, A., Mantegazza, M., Labate, A., Rusconi, R., Schiavon, E., Annesi, F., Cassulini, R. R., Carrideo, S., Chifari, R., et al. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01153.x · Cited by 46
“1 neuronal sodium channel alpha-subunit (SCN1A) gene have been linked to several epilepsy syndromes (Escayg et al., 2000; Wallace et al., 2001; Ohmori et al., 2002; Annesi et al., 2003; Claes et al., 2003; Fujiwara et al., 2003; Mulley et al., 2005).”
Background
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Fan, C., Wolking, S., Lehmann‐Horn, F., Hedrich, U. B. S., Freilinger, T. M., Lerche, H., Borck, G., Kubisch, C., & Jurkat‐Rott, K. (2016) · Cephalalgia · doi:10.1177/0333102415608360 · Cited by 46
Theataxia3Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking
Sharkey, L. M., Cheng, X., Drews, V. L., Buchner, D. A., Jones, J. M., Justice, M. J., Waxman, S. G., Dib‐Hajj, S. D., & Meisler, M. H. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.6026-08.2009 · Cited by 45
“1, between residues 78 to 102, have been identified in patients with epilepsy (Fujiwara et al., 2003; Nabbout et al., 2003; Fukuma et al., 2004; Harkin et al., 2007).”
Background
Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy
Ishii, A., Kanaumi, T., Sohda, M., Misumi, Y., Zhang, B., Kakinuma, N., Haga, Y., Watanabe, K., Takeda, S., Okada, M., et al. (2014) · Epilepsy Research · doi:10.1016/j.eplepsyres.2013.12.005 · Cited by 43
Genetics of the epilepsies
Gutiérrez‐Delicado, E., & Serratosa, J. M. (2004) · Current Opinion in Neurology · doi:10.1097/00019052-200404000-00011 · Cited by 42
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
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
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation
Osaka, H., Ogiwara, I., Mazaki, E., Okamura, N., Yamashita, S., Iai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui‐Furukori, N., et al. (2007) · Epilepsy Research · doi:10.1016/j.eplepsyres.2007.03.018 · 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
Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells
Tidball, A. M., & Parent, J. M. (2015) · Stem Cells · doi:10.1002/stem.2203 · Cited by 43
Ion channels and epilepsy
Graves, T. D. (2006) · QJM · doi:10.1093/qjmed/hcl021 · Cited by 41
“Missense mutations in SCN1A were identified in 8/10 patients with ICEGTCS.48 Functional analysis in HEK (human embryonic kidney) cells showed a wide range of defects, including two mutants that were nonfunctional.”
Background
Voltage‐gated sodium channels: Action players with many faces
Koopmann, T. T., Bezzina, C. R., & Wilde, A. A. M. (2006) · Annals of Medicine · doi:10.1080/07853890600969072 · Cited by 40
“SCN1A mutations have also been associated with intractable childhood epilepsies and frequent gen- eralized tonic-clonic seizures (ICEGTC) (66), familial febrile convulsions-3 (FEB3; MIM: 604403) (67), and borderline SMEI (SMEB, when not all the SMEI criteria are fulfilled) (68).”
Background
Severe Epilepsy Syndromes of Early Childhood: The Link Between Genetics and Pathophysiology With a Focus on SCN1A Mutations
Stafstrom, C. E. (2009) · Journal of Child Neurology · doi:10.1177/0883073809338152 · Cited by 41
“Another 30% to 40% of SCN1A mutations are missense, while the remaining 20% are small gene deletions and splice site mutations.(13,26) Duplications and deletions of exons have also been reported in a small proportion of cases.”
Background
Chapter 3 Familial Hemiplegic Migraine
Barrett, C. F., van den Maagdenberg, A. M. J. M., Frants, R. R., & Ferrari, M. D. (2008) · Advances in genetics · doi:10.1016/s0065-2660(08)01003-1 · Cited by 39
Model systems for studying cellular mechanisms of SCN1A -related epilepsy
Schutte, S. S., Schutte, R. J., Barragan, E. V., & O’Dowd, D. K. (2016) · Journal of Neurophysiology · doi:10.1152/jn.00824.2015 · Cited by 39
“The SCN1AS1231R mutation is a missense mutation identified in a DS patient who began experiencing hemiclonic seizures at 7 mo of age (Fujiwara et al. 2003).”
Background
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis
Verbeek, N. E., Trenité, D. G. A. K.-N., Wassenaar, M., van Campen, J. S., Sonsma, A. C. M., Gunning, W. B., de Weerd, A., Knoers, N. V. A. M., Spetgens, W. P. J., Gutter, T., et al. (2016) · Clinical Neurophysiology · doi:10.1016/j.clinph.2016.11.021 · Cited by 39
Debate: Does genetic information in humans help us treat patients?
Delgado‐Escueta, A. V., & Bourgeois, B. F. D. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2008.01922.x · Cited by 39
“Fujiwara et al. (2003) and Kanazawa (1992) also called this condition ‘‘intractable childhood epilepsies with frequent generalized tonic clonic seizures (grand mal) or refractory grand mal seizures with onset in infancy.’’”
BackgroundInfluential
Hemiconvulsion–hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy
Sakakibara, T., Nakagawa, E., Saito, Y., Sakuma, H., Komaki, H., Sugai, K., Sasaki, M., Kurahashi, H., & Hirose, S. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02175.x · Cited by 38
“Nonsense mutations of the SCN1A gene in the intracellular carboxyl terminal of the a1 subunit have been identified in patients with SMEI and other fever-sensitive epilepsies (Fujiwara et al., 2003; Fukuma et al., 2004; Marini et al., 2007), and a similar mutation was identified in this patient.”
Background
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes
Hahn, A., & Neubauer, B. A. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.04.012 · Cited by 38
NaV1.1 is essential for proprioceptive signaling and motor behaviors
Espino, C. M., Lewis, C. M., Ortiz, S., Dalal, M. S., Garlapalli, S., Wells, K. M., O’Neil, D. A., Wilkinson, K. A., & Griffith, T. N. (2022) · eLife · doi:10.7554/elife.79917 · Cited by 35
Hereditary Channelopathies in Neurology
Jurkat‐Rott, K., Lerche, H., Weber, Y. G., & Lehmann‐Horn, F. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-9485-8_18 · Cited by 38
“Similar to SMEI, intractable childhood epilepsy presents with generalized tonic– clonic seizures (ICEGTC) [ 31 ].”
Background
Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy
Agbo, J., Ibrahim, Z. G., Magaji, S. Y., Mutalub, Y. B., Mshelia, P. P., & Mhya, D. H. (2023) · Acta Epileptologica · doi:10.1186/s42494-023-00127-2 · Cited by 37
“Intractable childhood epilepsy generalized tonic-colonic is another type of epileptic seizure caused by VGSC mutations, which is similar to SMEI in many aspects, including pharmacoresistance, intractability, age onset, fever association and learning disability [44, 45].”
A Carboxyl-terminal Hydrophobic Interface Is Critical to Sodium Channel Function
Glaaser, I. W., Bankston, J. R., Liu, H., Tateyama, M., & Kass, R. S. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605473200 · Cited by 37
Untangling the Dravet Syndrome Seizure Network: The Changing Face of a Rare Genetic Epilepsy
Chopra, R., & Isom, L. L. (2014) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7597-14.2.86 · Cited by 35
Dravet syndrome: From electroclinical characteristics to molecular biology
Arzimanoglou, A. A. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02228.x · Cited by 35
“…myoclonias (SMEB; Fukuma et al., 2004), and 70% in patients with Dravet syndrome with myoclonias (Ohmori et al., 2002; Sugawara et al., 2002; Fujiwara et al., 2003; Nabbout et al., 2003; Wallace et al., 2003; Korff et al., 2007; Marini et al., 2007), similar to that observed for intractable…”
BackgroundResult
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A
Mahoney, K., Moore, S., Buckley, D. J., Alam, M. A., Parfrey, P. S., Penney, S., Merner, N. D., Hodgkinson, K. A., & Young, T. (2009) · Seizure · doi:10.1016/j.seizure.2009.04.009 · Cited by 34
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
“N191K/Y EIEE6 Depienne et al., 2009; Depienne et al., 2010 Huang et al., 2017 DI: D194G/N EIEE6 Depienne et al., 2009 Azmanov et al., 2010 Kodera et al., 2013 DIII: E1221K EIEE6 Zuberi et al., 2011 DIII: S1231R/T EIEE6 Fujiwara et al., 2003 Kearney et al., 2006 DIII: E1238D EIEE6 Harkin et al., 2007 DIII: E1266A EIEE6…”
Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster
Takai, A., Yamaguchi, M., Yoshida, H., & Chiyonobu, T. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176442 · Cited by 33
“The SCN1AS1231R mutation is another missense mutation identified in DS patients [91].”
Background
ParentalSCN1Amutation mosaicism in familial Dravet syndrome
Selmer, K. K., Eriksson, A.-S., Brandal, K., Egeland, T., Tallaksen, C. M. E., & Undlien, D. E. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01208.x · Cited by 33
Borderline Dravet syndrome: A useful diagnostic category?
Guerrini, R., & Oguni, H. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.02995.x · Cited by 32
“Infants with intractable generalized tonic–clonic seizures often induced by fever and beginning before 1 year of age, have been designated as having ‘‘intractable childhood epilepsy with generalized tonic–clonic seizures (ICEGTC)’’ (Fujiwara et al., 2003).”
BackgroundInfluential
Phenotypes and genotypes in epilepsy with febrile seizures plus
Ito, M., Yamakawa, K., Sugawara, T., Hirose, S., Fukuma, G., & Kaneko, S. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2005.11.028 · Cited by 32
Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment
Dwivedi, R., Kaushik, M., Tripathi, M., Dada, R., & Tiwari, P. (2024) · Brain Research · doi:10.1016/j.brainres.2024.149120 · Cited by 36
Epilepsy and sodium channel gene mutations: gain or loss of function?
Yamakawa, K. (2004) · Neuroreport · doi:10.1097/00001756-200501190-00001 · Cited by 30
“In our study [20], SCN1A mutations were detected in B80% of SMEI patients; one-third of the mutations were missense and two-thirds of these were truncation mutations such as nonsense and frameshift.”
BackgroundResultInfluential
Differentiation of myoclonic seizures in epileptic syndromes: A video‐polygraphic study of 26 patients
Hirano, Y., Oguni, H., Funatsuka, M., Imai, K., & Ōsawa, M. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2008.01859.x · Cited by 29
“…been shown that borderline SME shares all clinical features with SME including SCN1A mutations except for absences of myoclonic seizures and GSW (Fujiwara et al., 2003; Fukuma et al., 2004), it is reasonable to speculate that a combination of the 3-Hz-GSW trait and SCN1A mutation generates…”
Background
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
Zeng, T., Dong, Z., Liu, S., Wan, R.-P., Tang, L.-J., Liu, T., Zhao, Q.-H., Shi, Y., Yi, Y., Liao, W., et al. (2014) · Human Genetics · doi:10.1007/s00439-014-1422-8 · Cited by 30
“Mutations in SCN1A coding region have been reported to be associated with various spectrum of epilepsies such as severe myoclonic epilepsy in infancy (sMeI; also named as Dravet syndrome, Ds), generalized epilepsy with febrile seizures plus (GeFs+), and so on (Claes et al. 2003; Depienne et al. 2009; escayg et al. 200…”
Phenotype definition in epilepsy
Winawer, M. R. (2006) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2006.01.012 · Cited by 29
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
Helbig, I., Barcia, G., Pendziwiat, M., Ganesan, S., Mueller, S. H., Helbig, K. L., Vaidiswaran, P., Xian, J., Galer, P. D., Afawi, Z., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51062 · Cited by 28
Dravet syndrome: a genetic epileptic disorder.
Akiyama, M., Kobayashi, K., & Ohtsuka, Y. (2012) · PubMed · doi:10.18926/amo/48961 · Cited by 29
“In addition, both types have high rates of SCN1A mutations [10, 11, 12], which led to the perception that the spectrum of typical and borderline DS cases constitutes a single syndromic entity.”
Background
Refractory, life-threatening status epilepticus in a 3-year-old girl
Striano, P., Striano, S., Minetti, C., & Zara, F. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70043-7 · Cited by 27
Drosophilaas a Model for Intractable Epilepsy:GilgameshSuppresses Seizures inparabss1Heterozygote Flies
Howlett, I. C., Rusan, Z. M., Parker, L., & Tanouye, M. A. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.006130 · Cited by 27
Infections as causative factors of epilepsy
Takahashi, Y. (2006) · Future Neurology · doi:10.2217/14796708.1.3.291 · Cited by 27
“Patients with sodium channel (SCN)1A mutations have frequent feverinduced seizures during common infections [19,20].”
Background
Na channel gene mutations in epilepsy—The functional consequences
Yamakawa, K. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2005.11.025 · Cited by 27
Na+channelopathies and epilepsy: recent advances and new perspectives
Marini, C., & Mantegazza, M. (2010) · Expert Review of Clinical Pharmacology · doi:10.1586/ecp.10.20 · Cited by 26
A genetic diagnostic approach to infantile epileptic encephalopathies
Kamien, B., Cardamone, M., Lawson, J. A., & Sachdev, R. (2012) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2012.01.017 · Cited by 25
Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Na v 1.4 channel
Kuzmenkin, A., Jurkat‐Rott, K., Lehmann‐Horn, F., & Mitrović, N. (2003) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-003-1137-5 · Cited by 25
“These are mutations in the cardiac sodium channel a-subunit gene SCN5A causing LQT-3 (S941N [29], A997S [1], D1114N [33]) and in the brain sodium channel a-subunit gene SCN1A causing GEFS+ (W1204R [10]), or ICEGTC (N1011I [12]).”
Background
Sodium Channel Carboxyl-terminal Residue Regulates Fast Inactivation
Nguyen, H. M., & Goldin, A. L. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.054940 · Cited by 25
Mechanisms underlying epilepsies associated with sodium channel mutations
Steinlein, O. K. (2014) · Progress in brain research · doi:10.1016/b978-0-444-63326-2.00005-3 · Cited by 26
Symptomatic Epilepsies Imitating Idiopathic Generalized Epilepsies
Oguni, H. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.00318.x · Cited by 25
Genetics of epilepsies
Andrade, D. M., & Minassian, B. A. (2007) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.7.6.727 · Cited by 25
Severe infantile epilepsies: molecular genetics challenge clinical classification
Scheffer, I. E. (2003) · Brain · doi:10.1093/brain/awg047 · Cited by 25
Early clinical features in Dravet syndrome patients with and without SCN1A mutations
Petrelli, C., Passamonti, C., Cesaroni, E., Mei, D., Guerrini, R., Zamponi, N., & Provinciali, L. (2011) · Epilepsy Research · doi:10.1016/j.eplepsyres.2011.10.010 · Cited by 25
Genetic basis of pediatric epilepsy syndromes
Zhang, D., Liu, X., & Deng, X. (2017) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2017.4267 · Cited by 25
“1) ranging from mild (GEFS+) to severe (SMEI), with the intermediary borderland clinical syndromes, depending upon the type of mutation, with truncation mutations being most severe and missense mutations that cause single amino acid substitutions being less severe (29).”
Influential
Antiepileptic drugs for the treatment of infants with severe myoclonic epilepsy
Brigo, F., & Igwe, S. C. (2015) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd010483.pub3 · Cited by 23
SCN1A-Related Seizure Disorders
Miller, I., & de Menezes, M. A. S. (2014) · Cited by 23
Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism
Yamakawa, K. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00015-7 · Cited by 23
Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons
Yamagata, T., Ogiwara, I., Tatsukawa, T., Suzuki, T., Otsuka, Y., Imaeda, N., Mazaki, E., Inoue, I., Tokonami, N., Hibi, Y., et al. (2023) · eLife · doi:10.7554/elife.87495 · Cited by 25
Drosophila sodium channel mutations: Contributions to seizure-susceptibility
Kroll, J. R., Saras, A., & Tanouye, M. A. (2015) · Experimental Neurology · doi:10.1016/j.expneurol.2015.06.018 · Cited by 22
“The SCN1A mutation (S1231R) is an amino acid substitution in the S1 segment of HD3, and is responsible for Dravet's syndrome, an intractable epilepsy (Fujiwara et al., 2003).”
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
Kanai, K., Yoshida, S., Hirose, S., Oguni, H., Kuwabara, S., Sawai, S., Hiraga, A., Fukuma, G., Iwasa, H., Kojima, T., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.060897 · Cited by 22
Scn2a sodium channel mutation results in hyperexcitability in the hippocampus in vitro
Kile, K. B., Tian, N., & Durand, D. M. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01413.x · Cited by 22
“…et al., 2006b), severe myoclonic epilepsy of infancy (SMEI) (Claes et al., 2001; Ohmori et al., 2002; Sugawara et al., 2002; Claes et al., 2003; Fujiwara et al., 2003; Ceulemans et al., 2004; Kamiya et al., 2004; Ohmori et al., 2006; Suls et al., 2006), and benign familial neonatal-infantile…”
Background
Seizures, Encephalopathy, and Vaccines: Experience in the National Vaccine Injury Compensation Program
Lateef, T. M., Johann‐Liang, R., Kaulas, H., Hasan, R., Williams, K., Caserta, V., & Nelson, K. B. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.10.054 · Cited by 21
When Should Clinicians Order Genetic Testing for Dravet Syndrome?
Capal, J. K., Holland, K. D., Gilbert, D. L., & Hallinan, B. E. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.08.001 · Cited by 21
Ca2+-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors
Mahling, R. W., Rahlf, C. R., Hansen, S. C., Hayden, M. R., & Shea, M. A. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100458 · Cited by 20
Genetics of Epilepsy and Relevance to Current Practice
Michelucci, R., Pasini, E., Riguzzi, P., Volpi, L., Dazzo, E., & Nobile, C. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0281-8 · Cited by 20
A long-term follow-up study of Dravet syndrome up to adulthood
Akiyama, M., Kobayashi, K., Yoshinaga, H., & Ohtsuka, Y. (2011) · Okayama Igakkai Zasshi (Journal of Okayama Medical Association) · doi:10.4044/joma.123.91 · Cited by 20
Tiered analysis of whole-exome sequencing for epilepsy diagnosis
Dunn, P. J., Maher, B. H., Albury, C. L., Stuart, S., Sutherland, H. G. E., Maksemous, N., Benton, M. C., Smith, R. A., Haupt, L. M., & Griffiths, L. R. (2020) · Molecular Genetics and Genomics · doi:10.1007/s00438-020-01657-x · Cited by 21
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases
Chen, C., Fang, F., Wang, X., Lv, J., Wang, X., & Jin, H. G. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.821012 · Cited by 20
Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy
Brigo, F., & Storti, M. (2013) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd010483.pub2 · Cited by 19
Molecular and cellular basis: Insights from experimental models of Dravet syndrome
Yamakawa, K. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03006.x · Cited by 19
“Missense mutations in SCN1A were also found in 70% of patients having intractable childhood epilepsy with generalized tonic–clonic seizures (ICEGTC), an atypical form of Dravet syndrome that does not show myoclonic seizures (Fujiwara et al., 2003).”
Background
The genetic relationship between epilepsy and hemiplegic migraine
Huang, Y., Xiao, H., Qin, X., Nong, Y., Zou, D., & Wu, Y. (2017) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s132451 · Cited by 19
“SCN1A gene Dozens of mutations are associated with epilepsy.(36) However, only some mutation sites are associated with FHM type 3 (FHM3).”
Small changes in synaptic gain lead to seizure-like activity in neuronal network at criticality
Du, J., Vegh, V., & Reutens, D. C. (2019) · Scientific Reports · doi:10.1038/s41598-018-37646-9 · Cited by 18
Voltage-gated Sodium Channels and Blockers: An Overview and Where Will They Go?
Li, Z., Chen, L.-X., & Li, H. (2019) · Current Medical Science · doi:10.1007/s11596-019-2117-0 · Cited by 19
Role of genetics in the diagnosis and treatment of epilepsy
Ferraro, T. N., Dlugos, D., & Buono, R. J. (2006) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.6.12.1789 · Cited by 19
Genetic epileptic encephalopathies: Is all written into the DNA ?
Striano, P., Jonghe, P. D., & Zara, F. (2013) · Epilepsia · doi:10.1111/epi.12419 · Cited by 18
“The severity of the phenotype may be also 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).”
Background
Sudden Cardiac Death and Disorders of the QT Interval: Anesthetic Implications and Focus on Perioperative Management
Ramakrishna, H., O’Hare, M., Mookadam, F., Gutsche, J. T., Shah, R. S., & Augoustides, J. G. (2015) · Journal of Cardiothoracic and Vascular Anesthesia · doi:10.1053/j.jvca.2015.07.026 · Cited by 17
Clinical and genetic aspects of idiopathic epilepsies in childhood
Callenbach, P. M. C., van den Maagdenberg, A. M. J. M., Frants, R. R., & Brouwer, O. F. (2005) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2004.12.005 · Cited by 18
Generalized Epilepsy With Febrile Seizures plus: Novel SCN1A Mutation
Dimova, P., Yordanova, I., Bojinova, V., Jordanova, A., & Kremenski, I. (2010) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2009.09.007 · Cited by 18
“Dravet syndrome is characterized by a broad spectrum of SCN1A mutations, including missense and truncating mutations, as well as large intragenic deletions, all found mostly de novo in approximately 70% of the patients [2-5,7-11].”
Background
Molecular genetics of infantile nervous system channelopathies
Gardiner, M. (2006) · Early Human Development · doi:10.1016/j.earlhumdev.2006.09.013 · Cited by 18

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
DOI: 10.1093/brain/awg053
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

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks