Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families

Brain

Volumn 123, Issue 6, 2000, Pages 1247-1262

  Picard, Fabienne ^a,h   Baulac, S ^b   Kahane, P ^c   Hirsch, E ^a   Sebastianelli, R ^f   Thomas, P ^d   Vigevano, F ^f   Genton, P ^e   Guerrini, R ^g   Gericke, C A ^a   An, I ^b   Rudolf, G ^a   Herman, A ^b   Brice, A ^b   Marescaux, C ^a   LeGuern, E ^b  

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Clinique Neurologique   (France)

^d PASTEUR HOSPITAL   (France)

^e CENTRE SAINT PAUL   (France)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g Istituto Neuropsichiatria Infantile   (Italy)

^h GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

ADNFLE; FTLE; Genetics; Nicotinic acetylcholine receptor; Partial epilepsy

Indexed keywords

CARBAMAZEPINE; NICOTINIC RECEPTOR; VALPROIC ACID;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 10Q; CLINICAL EXAMINATION; ELECTROENCEPHALOGRAM; FEMALE; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY;

EID: 17344377862     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.6.1247     Document Type: Article

References (47)

1. Bancaud J, Brunet-Bourgin F, Chauvel P, Halgren E. Anatomical origin of déjà vu and vivid 'memories' in human temporal lobe epilepsy. Brain 1994; 117: 71-90.
2. Berkovic SF, Howell RA, Hopper JL. Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. In: Wolf P, editor. Epileptic seizures and syndromes. London: John Libbey; 1994. p. 257-63.
3. Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996; 40: 227-35.
4. Bourgeois BFD. Establishment of pharmacoresistance. In: Wolf P, editor. Epileptic seizures and syndromes. London: John Libbey; 1994. p. 591-7.
5. Cendes F, Lopes-Cendes I, Andermann E, Andermann F. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998; 50: 554-7.
6. Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997; 6: 1329-34.
7. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, et al. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 1997; 94: 587-92.
8. Gloor P. Olivier A, Quesney LF, Andermann F, Horowitz S. The role of the limbic system in experiential phenomena of temporal lobe epilepsy. Ann Neurol 1982; 12: 129-44.
9. Gotti C, Fornasari D, Clementi F. Human neuronal nicotinic receptors. [Review]. Prog Neurobiol 1997; 53: 199-237.
10. Guipponi M, Baldy-Moulinier M, Malafosse A. A fokl polymorphism in the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene. Clin Genet 1997; 51: 78-9.
11. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 7: 246-339.
12. Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997; 49: 969-75.
13. Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 1999; 53: 1749-53.
14. 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.
15. Juul-Jensen P. Epidemiology of intractable epilepsy. In: Schmidt D, Morselli PL, editors. Intractable epilepsy. New York: Raven Press; 1986. p. 5-11.
16. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482-98.
17. Magnusson A, Nakken KO, Brubakk E. Autosomal dominant frontal lobe epilepsy [letter]. Lancet 1996; 347: 1191-2.
18. Munari C, Francione S, Kahane P, Hoffmann D, Tassi L, Lo Russo G, et al. Multilobar resections for the control of epilepsy. In: Schmidek HH, Sweet WJ, editors. Operative neurosurgical techniques, Vol. 2. 3rd ed. Philadelphia: W.B. Saunders; 1995. p. 1323-39.
19. Nakken KO, Magnusson A, Steinlein OK. Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. Epilepsia 1999; 40: 88-92.
20. Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, et al. Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 1998; 51: 1608-12.
21. Oldani A, Zucconi M, Ferini-Strambi L, Bizzozero D, Smirne S. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia 1996; 37: 964-76.
22. Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalprà L, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 1998; 121: 205-23.
23. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet 1995; 10: 56-60.
24. Penfield W, Jasper H. Epilepsy and the functional anatomy of the human brain. Boston: Little, Brown; 1954.
25. 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 [letter]. Nat Genet 1995; 10: 117-18.
26. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, et al. Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998; 63: 1108-16.
27. Picard F, Bertrand S, Steinlein OK, Bertrand D. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. Epilepsia 1999; 40: 1198-209.
28. Poza JJ, Saenz A, Martinez-Gil A, Cheron N, Cobo AM, Urtasun M, et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 1999; 45: 182-8.
29. Rektor I, Svejdova M, Kanovsky P, Landré E, Bancaud J, Lamarche M. Can epileptologists without access to intracranial EEG use reliably the International League Against Epilepsy classification of the localization-related epileptic syndromes? J Clin Neurophysiol 1997; 14: 250-4.
30. Rempel N, Heyers S, Engels H, Sleegers E, Steinlein OK. The structures of the human neuronal nicotinic acetylcholine receptor β2-and α3-subunit genes (CHRNB2 and CHRNA3). Hum Genet 1998; 103: 645-53.
31. Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, et al. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997; 10: 443-52.
32. Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, et al. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol 1999; 56: 1004-9.
33. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered 1994; 44: 225-37.
34. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995a; 118: 61-73.
35. Scheffer IE, Phillips H, Mulley J, Sutherland G, Harvey AS, Hopkins IJ, et al. Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy [abstract]. Epilepsia 1995b; 36 Suppl 3: S28.
36. Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, Wallace RH, et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998; 44: 890-9.
37. Schmidt D. Medical intractability in partial epilepsies. In: Lüders HO, editor. Epilepsy surgery. New York: Raven Press; 1991. p. 83-91.
38. Semah F, Picot MC, Adam C, Broglin D, Arzimanoglou A, Bazin B, et al. Is the underlying cause of epilepsy a major prognostic factor for recurrence? Neurology 1998; 51: 1256-62.
39. Shukla GD, Srivastava ON, Katiyar BC. Sexual disturbances in temporal lobe epilepsy: a controlled study. Br J Psychiatry 1979; 134: 288-92.
40. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11: 201-3.
41. Steinlein O, Weiland S, Stoodt J, Propping P. Exon-intron structure of the human neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). Genomics 1996; 32: 289-94.
42. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997a; 6: 943-7.
43. Steinlein OK, Sander T, Stoodt J, Kretz R, Janz D, Propping P. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. Am J Med Genet 1997b; 74: 445-9.
44. Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Dürr A, Cancel G, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q 24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994; 54: 11-20.
45. Thomas P, Picard F, Hirsch E, Chatel M, Marescaux C. Epilepsie frontale nocturne autosomique dominante. Rev Neurol (Paris) 1998; 154: 228-35.
46. Trojaborg W. EEG abnormalities in 5,893 jet pilot applicants registered in a 20-year period. Clin Electroencephalogr 1992; 23: 72-8.
47. Vigevano F, Fusco L. Hypnic tonic postural seizures in healthy children provide evidence for a partial epileptic syndrome of frontal lobe origin. Epilepsia 1993; 34: 110-19.