Genetics of idiopathic generalized epilepsies

Epilepsia

Volumn 46, Issue SUPPL. 9, 2005, Pages 15-20

  Gardiner, Mark ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

Author keywords

Genetics; Idiopathic generalized epilepsy; Ion channels

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; CHLORIDE CHANNEL; POTASSIUM CHANNEL KCNQ1; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; SODIUM CHANNEL; ION CHANNEL;

ABSENCE; AUTOSOMAL DOMINANT DISORDER; BENIGN CHILDHOOD EPILEPSY; CACNA1H GENE; CHANNELOPATHY; CHILDHOOD ABSENCE EPILEPSY; CHINESE; EFHC1 GENE; FEBRILE CONVULSION; GABRG2 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC RISK; GENETIC TRAIT; HUMAN; IDIOPATHIC DISEASE; IDIOPATHIC GENERALIZED EPILEPSY; JUVENILE MYOCLONIC EPILEPSY; KCNQ2 GENE; KCNQ3 GENE; ME2 GENE; MISSENSE MUTATION; MONOGENIC DISORDER; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SCN1B GENE; SCN2A GENE; SCNA1A GENE; SEQUENCE ANALYSIS; CLASSIFICATION; GENETIC LINKAGE; GENETICS; MUTATION; PHENOTYPE;

EPILEPSY, GENERALIZED; HUMANS; ION CHANNELS; LINKAGE (GENETICS); MUTATION; PHENOTYPE;

EID: 32944459586     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2005.00310.x     Document Type: Review

References (67)

1. Scheffer IE, Berkovic SF. The genetics of human epilepsy. Trends Pharmacol Sci 2003;24:428-33.
2. Noebels JL. Exploring new gene discoveries in idiopathic generalized epilepsy. Epilepsia 2003;44(suppl 2):16-21.
3. Steinlein OK. Genes and mutations in human idiopathic epilepsy. Brain Dev 2004;26:213-8.
4. Gourfinkel-An I, Baulac S, Nabbout R, et al. Monogenic idiopathic epilepsies. Lancet Neurol 2004;3:209-18.
5. Rett A, Teubel R. Neugeborenen Krampfe im Rahmen einer epileptisch belasten Familie. Wien Klin Wochenschr 1964;76:609-13.
6. Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-8.
7. Malafosse A, Leboyer M, Dulac O, et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992;89:54-8.
8. Ryan SG, Wiznitzer M, Hollman C, et al. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol 1991;29:469-73.
9. 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.
10. 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.
11. Dedek K, Kunath B, Kananura C, et al. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A 2001;98:12272-7.
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;18:53-5.
13. Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
14. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997;15:186-9.
15. Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-46.
16. Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282:1890-3.
17. Cooper EC, Aldape KD, Abosch A, et al. Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci USA 2000;97:4914-9.
18. Lerche H, Jurkat-Rott K, Lehmann-Horn F. Ion channels and epilepsy. Am J Med Genet 2001;106:146-59.
19. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
20. +-channel beta1 subunit gene SCN1B. Nat Genet 1998;19:366-70.
21. 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.
22. Moulard B, Guipponi M, Chaigne D, et al. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet 1999;65:1396-400.
23. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-45.
24. Sugawara T, Mazaki-Miyazaki E, Ito M, et al. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001;57:703-5.
25. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32.
26. Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58:1122-4.
27. Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
28. Dravet C. Leśepilepsies graves de l'enfant. Vie Med 1978;8:543-8.
29. Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-44.
30. Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-2.
31. Berkovic SF, Heron SE, Giordano L, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004;55:550-7.
32. Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-9.
33. Lossin C, Wang DW, Rhodes TH, et al. Molecular basis of an inherited epilepsy. Neuron 2002;34:877-84.
34. Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28:46-8.
35. Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-6.
36. A receptor mutations linked to epilepsy in humans. J Neurosci 2002;22:5321-7.
37. A receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52.
38. Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31:184-9.
39. Sander T, Schulz H, Saar K, et al. Genome search for susceptibility loci of common idiopathic generalized epilepsies. Hum Mol Genet 2000;9:1465-72.
40. Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33:527-32.
41. Durner M, Keddache MA, Tomasini L, et al. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 2001;49:328-35.
42. Greenberg DA, Cayanis E, Strug L, et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 2005;76:139-46.
43. Marini C, Scheffer I, Crossland K, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 2004;45:467-78.
44. Winawer MR, Rabinowitz D, Pedley TA, et al. Genetic influences on myoclonic and absence seizures. Neurology 2003;61:1576-81.
45. Delgado-Escueta AV, Perez-Gosiengfiao KB, Bai D, et al. Recent developments in the quest for myoclonic epilepsy genes. Epilepsia 2003;44(suppl 11):13-26.
46. Tan NC, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: 'the truth is out there'. Epilepsia 2004;45:1429-42.
47. Delgado-Escueta AV, Greenberg D, Weissbecker K. Gene mapping in the idiopathic generalized epilepsies. Epilepsia 1990;31(suppl 3):519-29.
48. Panayiotopoulos CP, Obeid T. Juvenile myoclonic epilepsy: an autosomal recessive disease. Ann Neurol 1989;25:440-3.
49. Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Strengthened evidence for linkage of juvenile myoclonic epilepsy to HLA and BF. Cytogenet Cell Genet 1989;51:1008.
50. 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.
51. Weissbecker KA, Durner M, Janz D, et al. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chromosome 6. Am J Med Genet 1991;38:32-6.
52. Durner M, Sander T, Greenberg DA, et al. Localisation of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991;41:1651-5.
53. Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11:linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-81.
54. Pal DK, Evgrafov OV, Tabares P, et al. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 2003;73:261-70.
55. Whitehouse W, Diebold U, Rees M, et al. Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal spikes. Neuropediatrics 1993;24:208-10.
56. 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.
57. Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004;36:842-9.
58. 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.
59. Taske NL, Williamson MP, Makoff A, et al. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. Epilepsy Res 2002;49:157-72.
60. Mas C, Taske N, Deutsch S, et al. Association of the connexin36 gene with juvenile myoclonic epilepsy. J Med Genet 2004;41:1-7.
61. Sander T, Schulz H, Vieira-Saeker AM, et al. Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14. Am J Med Genet 1999;88:182-7.
62. Beck-Mannagetta G, Janz D. Syndrome-related genetics in generalized epilepsy. Epilepsy Res 1991;4:105-11.
63. Crunelli V, Leresche N. Childhood absence epilepsy: genes, channels, neurons and networks. Nat Rev Neurosci 2002;3:371-82.
64. Loiseau P. Childhood absence epilepsy. In: Roger J, Bureau M, Dravet CH, et al., eds. Epilepsy syndromes in infancy, childhood and adolescence. London: John Libbey, 1992:135-50.
65. 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.
66. Robinson R, Taske N, Sander T, et al. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res 2002;48:169-79.
67. Chen Y, Lu J, Pan H, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2003;54:239-43.