Genetics of childhood epilepsy

Archives of Disease in Childhood

Volumn 82, Issue 2, 2000, Pages 121-125

  Robinson, Robert ^a   Gardiner, Mark ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ABSENCE; ARTICLE; CHILD; CHILDHOOD DISEASE; DISEASE CLASSIFICATION; EPILEPSY; FAMILIAL DISEASE; FEBRILE CONVULSION; GENETIC DISORDER; HUMAN; IDIOPATHIC DISEASE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

CHILD; EPILEPSY; EPILEPSY, ABSENCE; HUMANS; MYOCLONIC EPILEPSY, JUVENILE;

EID: 0034026026     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.82.2.121     Document Type: Article

References (46)

1. 1 Annegers JF, Rocca WA, Hauser WA. Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin Proc 1996;71:570-5.
2. 2 Bate L, Gardiner RM. Genetics of inherited epilepsies. Epileptic Disorders 1999;1:7-19.
3. 3 Elmslie FV, Gardiner RM. The epilepsies. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's principles and practice of medical genetics, 3rd ed. Edinburgh: Churchill Livingstone, 1997:2177-96.
4. 4 Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-8.
5. 5 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;18:25-9.
6. 6 Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-5.
7. 7 Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family [see comments]. Nat Genet 1998;18:53-5.
8. 8 Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-7.
9. 9 Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995;10:117-18.
10. 10 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;11:201-3.
11. 11 Steinlein O, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:943-7.
12. 12 Wallace R, Wang D, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998; 19:366-70.
13. 13 Baulac S, Gourfinkel-An I, Picard F, et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999;65: 1078-85.
14. 14 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: 1329-34.
15. 15 Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988;31:185-92.
16. 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;59:653-63.
17. 17 Fong GC, Shah PU, Gee MN, et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet 1998;63:1117-29.
18. 18 Sander T, Hildmann T, Kretz R, et al. Allelic association of juvenile absence epilepsy with a GIuR5 kainate receptor gene (GRIK1) polymorphism. Am J Med Genet 1997;74: 416-21.
19. 19 Neubauer BA, Fiedler B, Himmelein B, et al. Centerotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 1998;51:1608-12.
20. 19A Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
21. 20 Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33: 308-12.
22. 21 Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the midwest. Hum Mol Genet 1998;7:63-7.
23. 22 Metrakos K, Metrakos JD. Genetics of convulsive disorders II. Genetic and electroencephalographic studies in centrencephalic epilepsy. Neurology 1961;11:474-83.
24. 23 Fletcher CF, Lutz CM, O'Sullivan TN, et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996;87:607-17.
25. 2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (Ih) mouse. Cell 1997;88:385-92.
26. 25 Letts VA, Felix R, Biddlecome GH, et al. The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet 1998;19:340-7.
27. 26 Cox GA, Lutz CM, Yang CL, et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice [published erratum appears in Cell 1997;91:861]. Cell 1997;91:139-48.
28. 27 Kantheti P, Qiao X, Diaz ME, et al. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998;21:111-22.
29. 28 Lehesjoki AE, Koskiniemi M, Sistonen P, et al. Localisation of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991;88:3696-9.
30. 29 Pennacchio LA, Lehesjoki A-E, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-4.
31. 30 Virtaneva K, D'Amato E, Miao J, et al. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 1997;15:393-6.
32. 31 Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 1998;20:251-8.
33. 32 Mole SE. Batten disease: four genes and still counting. Neurobiol Dis 1998;5:287-303.
34. 33 Vesa J, Hellsten E, Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-7.
35. 34 Sleat DE, Donnelly RJ, Lackland H, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997;277: 1802-5.
36. 35 Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998;19:286-8.
37. 36 Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997;6:591-5.
38. 37 Wheeler RB, Sharp JD, Mitchell WA, et al. A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7. Mol Genet Metab 1999;66:337-8.
39. 38 Das AK, Becerra CH, Yi W, et al. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest 1998;102:361-70.
40. 39 Mitchison HM, Taschner PE, Kremmidiotis G, et al. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics 1997;28: 12-14.
41. 40 Mitchison HM, Hofmann SL, Becerra CH, et al. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998;7:765]. Hum Mol Genet 1998;7:291-7.
42. 41 Ranta S, Zhang Y, Ross B, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 1999;23: 233-6.
43. 42 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;20:171-4.
44. Lys mutation. Cell 1990;61:931-7.
45. 44 Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1213-17.
46. 45 Zeviani M, Tiranti V, Piantadosi C. Mitochondrial disorders. Medicine (Baltimore) 1998;77:59-72.