Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q

Annals of Neurology

Volumn 45, Issue 2, 1999, Pages 182-188

  Poza, J J ^a   Saenz A ^a   Martinez Gil A ^b   Cheron, N ^c   Cobo, A M ^a   Urtasun, M ^a   Marti Masso J F ^a   Grid, D ^c   Beckmann, J S ^c   Prud'homme, J F ^c   Lopez de Munain A ^a  

^a Hospital Nuestra Senora de Aranzazu   (Spain)

^b Hospital Ntra Sra de la Antigua   (Spain)

^c GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; DNA; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 10Q; CLINICAL ARTICLE; ELECTROCARDIOGRAPHY; FEMALE; FOCAL EPILEPSY; GENETIC LINKAGE; GRAND MAL SEIZURE; HUMAN; MALE; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPAIN; TEMPORAL LOBE EPILEPSY;

EID: 0345003726     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199902)45:2<182::AID-ANA8>3.0.CO;2-G     Document Type: Article

References (40)

1. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203
2. 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;18:25-29
3. 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;18:53-55
4. Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279: 403-406
5. Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-648
6. Malafosse A, Leboyer M, Dulac O, et al. Confirmation of Jinkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992;89:54-58
7. 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;53:670-675
8. Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-477
9. Szepetowski P, Rochette J, Berquin P, et al. Familial infantile convulsions and paroxysmal choreoathetosis (ICCA): a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1998;61:889-898
10. Wallace RH, Berkovic SF, Howell RA, et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33:308-312
11. 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;7:63-67
12. Zara F, Bianchi A, Avanzini G, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1995;4:1201-1207
13. 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; 31:185-192
14. Durner M, Sander T, Greenberg DA, et al. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991;41:1651-1655
15. Weissbecker KA, Durner M, Janz D, et al. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. Am J Med Genet 1991;38:32-36
16. Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-381
17. Whitehouse WP, Rees M, Curtis D, et al. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. Am J Hum Genet 1993;53:652-662
18. 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;59:653-663
19. 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;6:1329-1334
20. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-517
21. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal epilepsy. A distinctive clinical disorder. Brain 1995;118:61-73
22. Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995;10:117-118
23. Steinlein OK, 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: 943-948
24. Oldani A, Zucconi M, Asselta R, 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;121:205-223
25. Scheffer IE, Phillips H, Mulley J, et al. Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 1995; 36(Suppl 3):28 (Abstract)
26. Scheffer IE, Jones L, Pozzebon M, et al. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995;38:633-642
27. Cendes F, Lopes-Cendes I, Andermann E, Andermann F. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998;50:554-557
28. Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995;10: 56-60
29. Berkovic SF, McIntosh AM, Howell RA, et al. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996;40:227-235
30. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30: 389-399
31. Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154
32. Reed PW, Davies JL, Copeman JB, et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet 1994;7:390-395
33. Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989;86:4175-4178
34. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446
35. Devous MD, Leroy R, Homan RW. Single photon emission computed tomography in epilepsy. Semin Nucl Med 1990;20: 325-341
36. Hayman M, Scheffer IE, Chinvarun Y, et al. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997;49: 969-975
37. Maher J, McLachlan RS. Febrile convulsions. Is seizure duration the most important predictor of temporal lobe epilepsy? Brain 1995;118:1521-1528
38. O'Brien TJ, Kilpatrick C, Murrie V, et al. Temporal lobe epilepsy caused by mesial temporal sclerosis and temporal neocortical lesions. A clinical and electroencephalographic study of 46 pathologically proven cases. Brain 1996;119:2133-2141
39. Harvey AS, Berkovic SF, Wrennall JA, Hopkins IJ. Temporal lobe epilepsy in childhood: clinical, EEG, and neuroimaging findings and syndrome classification in a cohort with new-onset seizures. Neurology 1997;49:960-968
40. Wilson MH, Janumpalli S, Ottman R, et al. Evaluation of the α-2A adrenergic receptor as a candidate gene for an autosomal dominant form of human epilepsy. Epilepsia 1997;38(Suppl 8): 200 (Abstract)