Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

Neurology

Volumn 53, Issue 6, 1999, Pages 1180-1183

  Plaster, N M ^a   Uyama, E ^c   Uchino, M ^c   Ikeda, T ^c,d   Flanigan, K M ^a   Kondo, I ^f   Ptáček, Louis J ^a,b,e  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^d Yamaga Municipal Hospital   (Japan)

^e UNIVERSITY OF UTAH   (United States)

^f NONE

Author keywords

Chromosome 8q24; Epilepsy; Linkage analysis; Myoclonus

Indexed keywords

ARTICLE; CHROMOSOME 8Q; CLINICAL ARTICLE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

EID: 0032881391     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.6.1180     Document Type: Article

References (18)

1. Adams RD, Victor M, Ropper AH. Epilepsy and other seizure disorders. Principles of neurology, 6th ed. New York: McGraw-Hill, 1997.
2. Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988;31: 185-192.
3. Uyama E, Kumamoto T, Ikeda T, Iwakiri T, Uchino M, Araki S. A family of familial myoclonic epilepsy characterized by middle-adult onset presenting with finger tremorous involuntary movements and benign course. Clin Neurol 1985;25: 1491-1492.
4. Yasuda T. Benign adult familial myoclonic epilepsy (BAFME). Kawasaki Med J 1991;17:1-13.
5. Uyama E, Tokunaga M, Murakami T, Kuwano A, Kondo I, Uchino M. Familial adult myoclonus epilepsy: a new phenotype of autosomal dominant myoclonus epilepsy. Ann Neurol 1996;40:505. Abstract.
6. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990;28: 113-116.
7. Fouad GT, Servidei S, Durcan S, Bertini E, Ptacek LJ. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996;59:135-139.
8. Steinlein OK, Mulley JC, Propping P, 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.
9. Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-1734.
10. Minassian BA, Lee JR, Herbrick JA, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 1998;20:171-174.
11. Serratosa JM, Gomez-Garre P, Gallardo ME, et al. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet 1999;8:345-352.
12. Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-55.
13. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-29.
14. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B. Nat Genet 1998;19:366-370.
15. Serratosa JM, Delgado-Escueta AV, Medina MT, Zhang Q, Iranmanesh R, Sparkes RS. Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy. Ann Neurol 1996;39:187-195.
16. Elmslie FV, Williamson MP, Rees M, et al. Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Am J Hum Genet 1996;59:653-663.
17. Elmslie FV, Rees M, Williamson MP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;6:1329-1334.
18. Jen J, Ptacek LJ. Channelopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and molecular basis of inherited disease, 8th ed. New York: McGraw-Hill, 1999.