Childhood absence epilepsy and febrile seizures: A family with a GABAA receptor mutation

Brain

Volumn 126, Issue 1, 2003, Pages 230-240

  Marini, Carla ^b   Harkin, Louise A ^b   Wallace, Robyn H ^b   Mulley, John C ^b   Scheffer, Ingrid E ^b   Berkovic, Samuel F ^a  

^a AUSTIN HEALTH   (Australia)

^b NONE

Author keywords

Childhood absence epilepsy; Epilepsy; GABAA receptor; Genetics; Linkage analysis

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; RECEPTOR SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CHILD; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 5; CONTROLLED STUDY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC LINKAGE; GRAND MAL EPILEPSY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR MECHANICS; MYOCLONIC ASTATIC EPILEPSY; PEDIGREE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; ELECTROENCEPHALOGRAPHY; EPILEPSY, ABSENCE; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; RECEPTORS, GABA-A; SEIZURES, FEBRILE;

EID: 0037224654     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg018     Document Type: Article

References (57)

1. Andermann E. Multifactorial inheritance of generalized and focal epilepsy. In: Anderson VE, Hauser WA, Penry JK, Sing CF, editors. Genetic basis of the epilepsies. New York: Raven Press; 1982. p. 129-45.
2. Annegers JF, Hauser WA, Anderson VE, Kurland LT. The risk of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 1982; 32: 174-79.
3. Appleton RE, Panayiotopoulos CP, Acomb BA, Beirne M. Eyelid myoclonia with typical absences: an epilepsy syndrome. J Neurol Neurosurg Psychiatry 1993; 56: 1312-16.
4. Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prudhomme JF, Baulac M, 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.
5. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the γ2 subunit gene. Nature Genet 2001; 28: 46-8.
6. Berkovic SF. Childhood absence epilepsy and juvenile absence epilepsy. In: Wyllie E, editor. The treatment of epilepsy: principles and practice. 2nd edn. Baltimore (MD): Williams & Wilkins; 1997. p. 461-6.
7. Berkovic SF, Andermann F, Andermann E, Gloor P. Concepts of absence epilepsies: discrete syndromes or biological continuum? [Review]. Neurology 1987; 37: 993-1000.
8. Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998; 43: 435-45.
9. Bianchi A, the Italian League Against Epilepsy Collaborative Group. Study of concordance of symptoms in families with absence epilepsies. In: Duncan JS, Panayiotopoulos CP, editors. Typical absences and related epileptic syndromes. London: Churchill Communications; 1995. p. 328-37.
10. Cavazzuti GB. Epidemiology of different types of epilepsy in school age children of Modena, Italy. Epilepsia 1980; 21: 57-62.
11. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981; 22: 489-501.
12. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-99.
13. Dieterich E, Baier WK, Doose H, Tuxhorn I, Fichsel H. Long term follow-up of childhood epilepsy with absences. I. Epilepsy with absences at onset. Neuropediatrics 1985; 16: 149-54.
14. Doose H, Baier WK. Absences. In: Beck-Mannagetta G, Anolerson EV, Doose H, Janz D, editors. Genetics of the epilepsies. Berlin: Spring-Verlag; 1989. p. 34-42.
15. Doose H, Gerken H, Horstmann T, Volzke E. Genetic factors in spike-wave absences. Epilepsia 1973; 14: 57-75.
16. Durner M, Zhou G, Fu D, Abreu P, Shinnar S, Resor SR, et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsy to chromosome 8-and genetic heterogeneity. Am J Hum Genet 1999; 64: 1411-19.
17. Durner M, Keddache MA, Tomasini L, Shinnar S, Resor SR, Cohen J, 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.
18. + 2. Nature Genet 2000; 24: 343-45.
19. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizure plus - and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001; 68: 866-73.
20. Essrich C, Lorez M, Benson JA, Fritschy JM, Luscher B. Postsynaptic clustering of major GABAA receptor subtypes requires the γ2 subunit and gephyrin. Nat Neurosci 1998; 1: 563-71.
21. Fong GC, Shah PU, Gee MN, Serratosa JM, Castroviejo IP, Khan S, 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.
22. Greenberg DA, Delgado-Escueta AV, Maldonado HM, Widelitz H. Segregation analysis of juvenile myoclonic epilepsy. Genet Epidemiol Suppl 1988a; 5: 81-94.
23. Greenberg DA, Delgado-Escueta AV, Widelitz H, Sparkes RS, Treiman L, Maldonado HM, et al. Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988b; 31: 185-92.
24. Greenberg DA, Durner M, Delgado-Escueta AV. Evidence for multiple gene loci in the expression of the common generalized epilepsies. [Review]. Neurology 1992; 42 (4 Suppl 5): 56-62.
25. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, 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.
26. Hauser WA, Annegers JF, Anderson VE, Kurland LT. The risk of seizure disorders among relatives of children with febrile convulsions. Neurology 1985; 35: 1268-73.
27. Italian League Against Epilepsy Genetic Collaborative Group. Concordance of clinical forms of epilepsy in families with several affected members. Epilepsia 1993; 34: 819-26.
28. Janz D, Beck-Mannagetta G, Sander T. Do idiopathic generalized epilepsies share a common susceptibility gene? Neurology 1992; 42 (4 Suppl 5): 48-55.
29. Johnson WG, Kugler SL, Stenroos ES, Meulener MC, Rangwalla I, Johnson TW, et al. Pedigree analysis in families with febrile seizures. Am J Med Genet 1996; 61: 345-52.
30. Johnson EW, Dubovsky J, Rich SS, O'Donovan CA, Orr HT, Anderson VE, 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.
31. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, et al. Human epilepsy with dysfunction of the brain P/Q-type calcium channel. Lancet 2001; 358: 801-7.
32. Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsion. Arch Neurol 2002; 59: 1137-41.
33. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-63.
34. Lennox WG, Lennox MA. Epilepsy and related disorders. Boston (MA): Little, Brown; 1960. p. 548-74.
35. Livingston S, Torres I, Pauli LL, Rider RV. Petit mal epilepsy. Results of a prolonged follow-up study of 117 patients. J Am Med Assoc 1965; 194: 113-8.
36. Loiseau P. Childhood absence epilepsy. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. 2nd edn. London: John Libbey; 1992. p. 135-50.
37. Metrakos K, Metrakos JD. Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy. Neurology 1961; 11: 474-83.
38. +) on chromosome 2q24-q33. Am J Hum Genet 1999; 65: 1396-400.
39. Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000; 9: 87-91.
40. Olsson I. Epidemiology of absence epilepsy. Acta Paediatr Scand 1988; 77: 860-6.
41. Ophoff RA, Terwindt GM, Frants RR, Ferrari MD. P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy. [Review]. Trends Pharmacol Sci 1998; 19: 121-7.
42. Penry JK, Porter RJ, Dreifuss FE. Simultaneous recording of absence seizures with video tape and electroencephalography. A study of 374 seizures in 48 patients. Brain 1975; 98: 427-40.
43. Reutens DA, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 1992; 33: 1065-71.
44. Rich SS, Annegers JF, Hauser WA, Anderson VE. Complex segregation analysis of febrile convulsions. Am J Hum Genet 1987; 41: 249-57.
45. Sander T, Kretz R, Schulz H, Sailer U, Bauer G, Scaramelli A, et al. Replication analysis of a putative susceptibility locus (EG1) for idiopathic generalized epilepsy on chromosome 8q24. Epilepsia 1998; 39: 715-20.
46. Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, et al. Genome search for susceptibility loci of common generalised epilepsies. Hum Mol Genet 2000; 9: 1465-72.
47. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-90.
48. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures: a common childhood onset genetic epilepsy syndrome. Ann Neurol 1999; 45: 75-81.
49. v 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci USA 2001; 98: 6384-89.
50. Tsuboi T. Genetic risk in offspring of epileptic parents. In: Beck-Mannagetta G, Anderson EV, Doose H, Janz D. editors. Genetics of the epilepsies. Berlin: Springer-Verlag; 1989. p. 111-18.
51. 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.
52. + channel β1 subunit gene SCN1B. Nature Genet 1998; 19: 366-70.
53. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, et al. Mutant GABA(A) receptor β2- subunit in childhood absence epilepsy and febrile seizures. Nature Genet 2001a; 28: 49-52.
54. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, et al. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizure plus. Am J Hum Genet 2001b; 68: 859-65.
55. Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002; 58: 1426-9
56. Westling B, Weissbecker K, Serratosa JM, Jara-Prado A, Alsonso ME, Cordova S, et al. Evidence for linkage of juvenile myoclonic epilepsy with absence to chromosome 1p [abstract]. Am Hum Genet 1996; 59 Suppl: A241.
57. Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1995; 4: 1201-7.