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Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

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Blumenfeld H., Klein J.P., Schridde U., Vestal M., Rice T., Khera D.S. et al.:Early treatment suppresses the development of spike-wave epilepsy in a rat model. Epilepsia, 2008, 49: 400–409.10.1111/j.1528-1167.2007.01458.x314318218070091Search in Google Scholar

Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P.:De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet., 2001, 68: 1327–1332.10.1086/320609122611911359211Search in Google Scholar

Claes L.R., Ceulemans B., Audenaert D., Deprez L., Jansen A., Hasaerts D. et al.:De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology, 2004, 63: 2155–2158.10.1212/01.WNL.0000145629.94338.8915596769Search in Google Scholar

Dravet C., Bureau M., Guerrini R., Giraud N., Roger J.:Severe myoclonic epilepsy in infants. In: J. Roger, M. Bureau, C. Dravet, F.E. Dreifuss, A. Perret, P. Wolf (Eds), Epileptic syndromes in infancy, childhood and adolescence. 2nd ed., John Libbey & Company Ltd, London 1992, 75–88.Search in Google Scholar

Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M. et al.:Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain, 2003, 126: 531–546.10.1093/brain/awg05312566275Search in Google Scholar

Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S. et al.:Mutations of neuronal voltagegated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia, 2004, 45: 140–148.10.1111/j.0013-9580.2004.15103.x14738421Search in Google Scholar

Gennaro E., Veggiotti P., Malacarne M., Madia F., Cecconi M., Cardinali S. et al.:Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord., 2003, 5: 21–25.Search in Google Scholar

Hacia J.G.:Resequencing and mutational analysis using oligonucleotide microarrays. Nat. Genet., 1999, 21: 42–47.10.1038/44699915500Search in Google Scholar

Kaneko S,, Yoshida S., Kanai K., Yasui-Furukori N., Iwasa H.:Development of individualized medicine for epilepsy based on genetic information. Expert Rev. Clin. Pharmacol., 2008, 1: 661–681.10.1586/17512433.1.5.66124422737Search in Google Scholar

Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., Ramachandran Nair R. et al.:Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr. Neurol., 2006, 34: 116–120.10.1016/j.pediatrneurol.2005.07.00916458823Search in Google Scholar

Kwan P., Brodie M.J.:Early identification of refractory epilepsy. Engl. J. Med., 2000, 342: 314–319.10.1056/NEJM20000203342050310660394Search in Google Scholar

Madia F., Striano P., Gennaro E., Malacarne M., Paravidino R., Biancheri R. et al.:Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology, 2006, 10: 1230–1235.10.1212/01.wnl.0000238513.70878.5417030758Search in Google Scholar

Mulley J.C., Nelson P., Guerrero S., Dibbens L., Iona X., McMahon J.M. et al.:A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology, 2006, 67: 1094–1095.10.1212/01.wnl.0000237322.04338.2bSearch in Google Scholar

Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E. et al.:Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology, 2003, 24: 1961–1967.10.1212/01.WNL.0000069463.41870.2FSearch in Google Scholar

Nasir M., Olga V., Anthony M., Munir.:Exploring the genomic basis of pharmacoresistance in epilepsy: an integrative analysis of large-scale gene expression profiling studies on brain tissue from epilepsy surgery. Hum. Mol. Genet., 2011, 20: 4381–4394.10.1093/hmg/ddr365Search in Google Scholar

Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.:Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun., 2002, 295: 17–23.10.1016/S0006-291X(02)00617-4Search in Google Scholar

Ottman R., Hirose S., Jain S., Lerche H., Lopes-Cendes I., Noebels J.L. et al.:Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia, 2010, 51: 655–670. Reid C.A., Berkovic S.F., Petrou S.:Mechanisms of human inherited epilepsies. Prog. Neurobiol., 2009, 87: 41–57.Search in Google Scholar

Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K., Takanashi J.L. et al.:Mutations of the SCN1A gene in acute encephalopathy. Epilepsia, 2012, 53: 558–564.10.1111/j.1528-1167.2011.03402.x22309220Search in Google Scholar

Shi L., Reid L.H., Jones W.D., Shippy R., Warrington J.A., Baker S.C. et al.:The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat. Biotechnol., 2006, 24: 1151–1161.Search in Google Scholar

Steinlein O.K., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S.F. et al.:An Insertion Mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Human. Mol. Genet., 1997, 6: 943–947. Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R. et al.:A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet., 1995, 11: 201–203.Search in Google Scholar

Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G., Mazaki-Miyazaki E. et al.:A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. USA, 2001, 98: 6384–6389.10.1073/pnas.1110650983347711371648Search in Google Scholar

Suls A., Claeys K.G., Goossens D., Harding B., Van Luijk R., Scheers S. et al.:Microdeletion involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat., 2006, 27: 914–920.10.1002/humu.2035016865694Search in Google Scholar

Wang J.W., Kurahashi H., Ishii A., Kojima T., Ohfu M., Inoue T. et al.:Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia, 2008, 49: 1528–1534.10.1111/j.1528-1167.2008.01609.x18479393Search in Google Scholar

Zhu G., Okada M., Yoshida S., Ueno S., Mori F., Takahara T. et al.:Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. J. Neurosci., 2008, 28: 12465–12476.10.1523/JNEUROSCI.2961-08.2008667172119020039Search in Google Scholar

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