Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

Journal of Human Genetics

Volumn 56, Issue 10, 2011, Pages 742-747

  Mori, Satsuki ^a   Nakamura, Masayuki ^a   Yasuda, Takeshi ^b   Ueno, Shu Ichi ^c   Kaneko, Sunao ^d   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b Kurashikikinen Hospital   (Japan)

^c EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d HIROSAKI UNIVERSITY   (Japan)

Author keywords

array based comparative genomic hybridization; FCMTE; genome sequencing; genome wide scan; SNP analysis

Indexed keywords

AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 2P; CHROMOSOME 5P; CHROMOSOME 8Q; FRANCE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HAND MOVEMENT; HUMAN; INTRON; ITALY; JAPANESE; MICROSATELLITE MARKER; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; JAPAN; MALE; MICROSATELLITE REPEATS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 80155174764     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.93     Document Type: Article

References (28)

1. Yasuda, T. Benign adult familial myoclonic epilepsy (BAFME). Kawasaki Med. J. 17, 1-13 (1991).
2. Mikami, M., Yasuda, T., Terao, A., Nakamura, M., Ueno, S., Tanabe, H. et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am. J. Hum. Genet. 65, 745-751 (1999).
3. Inoue, S. one pedigree of hereditary tremor with epileptiform seizures. Seishin Shink. Zasshi 53, 33-37 (1951).
4. Kudo, J., Kudo, T. & Yamauchi, T. Seven families with heredofamilial tremor and epilepsy. Rinsho Shink. 24, 1-8 (1984).
5. Ikeda, A., Kakigi, R., Funai, N., Neshige, R., Kuroda, Y. & Shibasaki, H. Cortical tremor: a variant of cortical reflex myoclonus. Neurology 40, 1561-1565 (1990).
6. Inazuki, G., Naito, H., Ohama, E., Kawase, Y., Honma, Y., Tokiguchi, S. et al. A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy-the nosological place of familial essential myoclonus and epilepsy (FEME). Seishin Shink. Zasshi 92, 1-21 (1990).
7. Uyama, E., Tokunaga, M., Murakami, T., Kuwano, A., Kondo, I. & Uchino, M. Familial adult myoclonus epilepsy: a new phenotype of autosomal dominant myoclonic epilepsy [abstract]. Ann. Neurol. 40, 505 (1996).
8. Okino, S. Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder. J. Neurol. Sci. 145, 113-118 (1997).
9. Okuma, Y., Shimo, Y. & Shimura, H. Familial cortical tremor with epilepsy: an underrecognized familial tremor. Clin. Neurol. Neurosurg. 100, 75-78 (1998).
10. Guerrini, R., Bonanni, P., Patrignani, A., Brown, P., Parmeggiani, L. & Grosse, P. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain 124, 2459-2475 (2001).
11. van Rootselaar, A. F., van Schaik, I. N., van den Maagdenberg, A. M., Koelman, J. H., Callenbach, P. M. & Tijssen, M. A. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov. Disord. 20, 665-673 (2005).
12. Plaster, N. M., Uyama, E., Uchino, M., Ikeda, T., Flanigan, K. M., Kondo, I. et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 53, 1180-1183 (1999).
13. de Falco, F. A., Striano, P., de Falco, A., Striano, S., Santangelo, R., Perretti, A. et al. Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology 60, 1381-1385 (2003).
14. Striano, P., Zara, F. & Striano, S. Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol. Scand. 111, 211-217 (2005).
15. Depienne, C., Magnin, E., Bouteiller, D., Stevanin, G., Saint-Martin, C., Vidailhet, M. et al. Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. Neurology 74, 2000-2003.
16. van Rootselaar, A. F., Callenbach, P. M., Hottenga, J. J., Vermeulen, F. L., Speelman, H. D., Brouwer, O. F. et al. A Dutch family with 'familialcortical tremor with epilepsy'. Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1. J. Neurol. 249, 829-834 (2002).
17. Labauge, P., Amer, L. O., Simonetta-Moreau, M., Attane, F., Tannier, C., Clanet, M. et al. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology 58, 941-944 (2002).
18. Elia, M., Musumeci, S. A., Ferri, R., Scuderi, C., Del Gracco, S., Bottitta, M. et al. Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity? Arch. Neurol. 55, 1569-1573 (1998).
19. Amaral, P. P., Dinger, M. E., Mercer, T. R. & Mattick, J. S. The eukaryotic genome as an RNA machine. Science 319, 1787-1789 (2008).
20. Amaral, P. P., Clark, M. B., Gascoigne, D. K., Dinger, M. E. & Mattick, J. S. lncRNAdb: a reference database for long noncoding RNAs. Nucleic Acids Res. 39, D146-D151 (2011).
21. Avanzini, G., Franceschetti, S. & Mantegazza, M. Epileptogenic channelopathies: experimental models of human pathologies. Epilepsia 48, 51-64 (2007).
22. Greenberg, D. A. & Pal, D. K. The state of the art in the genetic analysis of the epilepsies. Curr. Neurol. Neurosci. Rep. 7, 320-328 (2007).
23. Christopher, A. R., Samuel, F. B. & Steven, P. Mechanisms of human inherited epilepsies. Prog. Neurobiol. 87, 41-57 (2009).
24. Stromme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M., Bruyere, H. et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30, 441-445 (2002).
25. Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Martinelli Boneschi, F. et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30, 335-341 (2002).
26. Saitsu, H., Kato, M., Mizuguchi, T., Hamada, K., Osaka, H., Tohyama, J. et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat. Genet. 40, 782-788 (2008).
27. Minassian, B. A., Lee, J. R., Herbrick, J. A., Huizenga, J., Soder, S., Mungall, A. J. et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat. Genet. 20, 171-174 (1998).
28. Suzuki, T., Delgado-Escueta, A. V., Aguan, K., Alonso, M. E., Shi, J., Hara, Y. et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet. 36, 842-849 (2004).