Mapping Human Epilepsy Genes: Implications for the Treatment of Epilepsy

CNS Drugs

Volumn 5, Issue 3, 1996, Pages 155-159

  Serratosa, José M ^a   Delgado Escueta, Antonio V ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLASSIFICATION; EPILEPSY; GENETICS; HUMAN; PRIORITY JOURNAL;

EID: 0029966533     PISSN: 11727047     EISSN: None     Source Type: Journal    
DOI: 10.2165/00023210-199605030-00001     Document Type: Article

References (19)

1. 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: 185-92
2. Zara F, Bianchi A, Avanzini G, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1995; 4: 1201-7
3. Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337: 647-8
4. Lewis TB, Leach RJ, Ward K, et al. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993; 53: 670-5
5. Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet 1995; 10: 117-8
6. Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet 1995; 10: 56-60
7. Lehesjoki A-E, Koskiniemi M, Sistonen P, et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991; 88: 3696-9
8. Serratosa JM, Delgado-Escueta AV, Posada I, et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum Mol Genet 1995; 4 (9): 1657-63
9. Eiberg H, Gardiner RM, Mohr J. Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chromosome 16. Clin Genet 1989; 36: 217-84
10. Barneveld RA, Keijzer W, Tegelaers FPW, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet 1983; 64: 227-31
11. Mueller OT, Henry WM, Haley LL, et al. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuroaminidase deficiency syndrome. Proc Natl Acad Sci USA 1986; 83: 1817-21
12. lys- mutation. Cell 1990; 61: 931-7
13. Tahvanainen E, Ranta S, Hirvasniemi A, et al. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 1994; 91: 7267-70
14. Beck C, Moulard B, Steinlein O, et al. A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol Dis 1994; 1:95-9
15. Yamakawa K, Mitchell S, Hubert R, et al. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet 1995; 4: 709-16
16. Lys and premature translation termination. Nature Genet 1995; 10: 47-55
17. Greenberg DA, Durner M, Resor S, et al. The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. Neurology 1995; 45: 942-6
18. Porter RJ, Rogawski MA. New antiepileptic drugs: from serendipity to rational discovery. Epilepsia 1992; 33 Suppl. 1: 1-6
19. Wivel NA, Walters L. Germ line gene modification and disease prevention: some medical and ethical perspectives. Science 1993; 262: 533-8