Presence of epilepsy-associated variants in large exome databases

Journal of Neurogenetics

Volumn 27, Issue 1-2, 2013, Pages 1-4

  Cherepanova, Natalya S ^a   Leslie, Elizabeth ^a   Ferguson, Polly J ^a   Bamshad, Michael J ^b   Bassuk, Alexander G ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Database; Epilepsy; Exome; Mutation

Indexed keywords

ARTICLE; CHROMOSOME IDENTIFICATION; CONTROLLED STUDY; EPILEPSY; EXOME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL LITERATURE; NATIONAL HEALTH ORGANIZATION; PATHOGENICITY; POPULATION; PRIORITY JOURNAL;

AFRICAN AMERICANS; DATABASES, GENETIC; EPILEPSY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; SOFTWARE;

EID: 84878533486     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2013.772176     Document Type: Article

References (12)

1. The 1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature, 467, 1061 - 1073.
2. Exome Variant Server. (n.d.). NHLBI Exome Sequencing Project (ESP), Seattle, WA. Retrieved July 2012 from http://evs.gs.washington.edu/EVS/.
3. Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., et al. (2007). The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 130, 843 - 852.
4. Klassen, T., Davis, C., Goldman, A., Burgess, D., Chen, T., Wheeler, D., et al. (2011). Exome sequencing of ion channel genes reveals complex profi les confounding personal risk assessment in epilepsy. Cell, 145, 1036 - 1048.
5. Mulley, J. C., Scheffer, I. E., Petrou, S., Dibbens, L. M., Berkovic, S. F., & Harkin, L. A. (2005). SCN1A mutations and epilepsy. Hum Mutat, 25, 535 - 542.
6. Nabbout, R., Gennaro, E., Dalla Bernardina, B., Dulac, O., Madia, F., Bertini, E., et al. (2003). Spectrum of SCN1A mutations in severe myoclonic epilepsies of infancy. Neurology, 60, 1961 - 1967.
7. Nelson, M. R., Wegmann, D., Ehm, M. G., Kessner, D., St Jean, P., Verzilli, C., et al. (2012). An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science, 337, 100 - 104.
8. Ottman, R., Hirose, S., Jain, S., Lerche, H., Lopes-Cendes, I., Noebels, J. L., et al. (2010). Genetic testing in the epilepsies - Report of the ILAE Genetics Commission. Epilepsia, 51, 655 - 670.
9. Suzuki, T., Delgado-Escueta, A. V., Aguan, K., Alonso, M. E., Shi, J., Hara, Y., et al. (2004). Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet, 36, 842 - 849.
10. Tennessen, J. A., Bigham, A. W., O ' Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., et al. (2012). Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science, 337, 64 - 69.
11. Wallace, R. H., Hodgson, B. L., Grinton, B. E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., et al. (2003). Sodium channel 〈 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61, 765 - 769.
12. +-channel β 1 subunit gene SCN1B. Nat Genet, 19, 366 - 370.