Uneingeschränkter Zugang

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


Zitieren

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

eISSN:
2300-0147
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
2 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Klinische Medizin, andere, Neurologie, Pharmakologie, Toxikologie, Pharmazie, Klinische Pharmazie