Targeted next generation sequencing as a diagnostic tool in epileptic disorders

作者: Johannes R. Lemke , Erik Riesch , Tim Scheurenbrand , Max Schubach , Christian Wilhelm

DOI: 10.1111/J.1528-1167.2012.03516.X

关键词:

摘要: … In contrast, recently developed Next Generation Sequencing (NGS) techniques allow … genes of interest (target sequence) (Mamanova et al., 2010; Metzker, 2010). Targeted NGS seems …

参考文章(25)
Alice Tanner, Hudson H. Freeze, Madhuri R. Hegde, Melanie A. Jones, Shruti Bhide, Ephrem Chin, Bobby G. Ng, Devin Rhodenizer, Victor W. Zhang, Jessica J. Sun, Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genetics in Medicine. ,vol. 13, pp. 921- 932 ,(2011) , 10.1097/GIM.0B013E318226FBF2
A. E. Shearer, A. P. DeLuca, M. S. Hildebrand, K. R. Taylor, J. Gurrola, S. Scherer, T. E. Scheetz, R. J. H. Smith, Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 21104- 21109 ,(2010) , 10.1073/PNAS.1012989107
Martin J. Brodie, Athanasios Covanis, Antonio Gil-Nagel, Holger Lerche, Emilio Perucca, Graeme J. Sills, H. Steve White, Antiepileptic drug therapy: Does mechanism of action matter? Epilepsy & Behavior. ,vol. 21, pp. 331- 341 ,(2011) , 10.1016/J.YEBEH.2011.05.025
B. A. Neubauer, S. Waldegger, J. Heinzinger, A. Hahn, G. Kurlemann, B. Fiedler, F. Eberhard, H. Muhle, U. Stephani, S. Garkisch, O. Eeg-Olofsson, U. Muller, T. Sander, KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology. ,vol. 71, pp. 177- 183 ,(2008) , 10.1212/01.WNL.0000317090.92185.EC
Deivasumathy Muthugovindan, Adam L. Hartman, Pediatric epilepsy syndromes The Neurologist. ,vol. 16, pp. 223- 237 ,(2010) , 10.1097/NRL.0B013E3181D9D6B7
Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana, Margaret Morgan, Donna Muzny, Richard Gibbs, Jeffrey Noebels, Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy Cell. ,vol. 145, pp. 1036- 1048 ,(2011) , 10.1016/J.CELL.2011.05.025
Yvonne G Weber, Holger Lerche, Genetic mechanisms in idiopathic epilepsies Developmental Medicine & Child Neurology. ,vol. 50, pp. 648- 654 ,(2008) , 10.1111/J.1469-8749.2008.03058.X
U. I. Scholl, M. Choi, T. Liu, V. T. Ramaekers, M. G. Hausler, J. Grimmer, S. W. Tobe, A. Farhi, C. Nelson-Williams, R. P. Lifton, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 Proceedings of the National Academy of Sciences of the United States of America. ,vol. 106, pp. 5842- 5847 ,(2009) , 10.1073/PNAS.0901749106
Francesco Miceli, Maria Virginia Soldovieri, Licia Lugli, Giulia Bellini, Paolo Ambrosino, Michele Migliore, Emanuele Miraglia del Giudice, Fabrizio Ferrari, Antonio Pascotto, Maurizio Taglialatela, Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiology of Disease. ,vol. 34, pp. 501- 510 ,(2009) , 10.1016/J.NBD.2009.03.009
R. Nabbout, E. Gennaro, B. Dalla Bernardina, O. Dulac, F. Madia, E. Bertini, G. Capovilla, C. Chiron, G. Cristofori, M. Elia, E. Fontana, R. Gaggero, T. Granata, R. Guerrini, M. Loi, L. La Selva, M. L. Lispi, A. Matricardi, A. Romeo, V. Tzolas, D. Valseriati, P. Veggiotti, F. Vigevano, L. Vallee, F. Dagna Bricarelli, A. Bianchi, F. Zara, Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology. ,vol. 60, pp. 1961- 1967 ,(2003) , 10.1212/01.WNL.0000069463.41870.2F