Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy

Brain Research Bulletin

Volumn 63, Issue 5, 2004, Pages 353-359

  Combi, Romina ^a   Dalprà, Leda ^b   Malcovati, Massimo ^a   Oldani, Alessandro ^c   Tenchini, Maria Luisa ^a   Ferini Strambi, Luigi ^c  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

ADNFLE; Linkage analysis; Mutation; Partial epilepsy; Sleep

Indexed keywords

NICOTINIC RECEPTOR;

ALPHA CHAIN; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETA CHAIN; CHROMOSOME 15Q; FRONTAL LOBE EPILEPSY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HUMAN; MULTIGENE FAMILY; NOCTURNAL SEIZURE; PATHOGENESIS; POLYMORPHIC LOCUS; POLYSOMNOGRAPHY; PRIORITY JOURNAL; RECEPTOR GENE;

EPILEPSY, FRONTAL LOBE; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; QUANTITATIVE TRAIT LOCI; RECEPTORS, NICOTINIC; SLEEP DISORDERS, INTRINSIC;

EID: 3042743366     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainresbull.2003.12.007     Document Type: Article

References (25)

1. J. Adams, S. Berkovic, I. Scheffer, Autosomal dominant nocturnal frontal lobe epilepsy, Gene Reviews, 2002.
2. Bertrand S., Weiland S., Berkovic S.F., Steinlein O.K., Bertrand D. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br. J. Pharmacol. 125:1998;751-760
3. Bievert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T., Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science. 279:1998;403-406
4. Bonati M.T., Asselta R., Duga S., Ferini-Strambi L., Oldani A., Zucconi M., Malcovati M., Dalprà L., Tenchini M.L. Refined mapping of CHRNA5/A3/B4 gene cluster and its implications in ADNFLE. NeuroReport. 11:2000;2097-2101
5. Bonati M.T., Combi R., Asselta R., Duga S., Malcovati M., Oldani A., Zucconi M., Ferini-Strambi L., Dalprà L., Tenchini M.L. Exclusion of nine nicotinic acetylcholine receptor subunit genes expressed in brain to ADNFLE in four unrelated families. J. Neurol. 249:2002;967-974
6. Bonati M.T., Duga S., Asselta R., Ferini-Strambi L., Oldani A., Zucconi M., Malcovati M., Dalprà L., Tenchini M.L. A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker. Mol. Cell Probe. 14:2000;373-380
7. De Fusco M.D., Becchetti A., Patrignani A., Annesi G., Gambardella A., Quattrone A., Ballabio A., Wanke E., Casari G. The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet. 26:2000;275-276
8. Dib C., Faure S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E., Lathrop M., Gyapay G., Morissette J., Weissenbach J. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 380:1996;152-154
9. Duga S., Asselta R., Bonati M.T., Malcovati M., Dalpra L., Oldani A., Zucconi M., Ferini-Strambi L., Tenchini M.L. Mutational analysis of nicotinic acetylcholine receptor beta 2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 43:2002;362-364
10. Duga S., Solda G., Asselta R., Bonati M.T., Dalpra L., Malcovati M., Tenchini M.L. Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms. J. Hum. Genet. 46:2001;640-648
11. Gambardella A., Annesi G., De Fusco M., Patrignani A., Aguglia U., Annesi F., Pasqua A.A., Spadafora P., Oliveti R.L., Valentino P., Zappia M., Ballabio A., Casari G., Quattrone A. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology. 55:2000;1467-1471
12. Kruglyak L., Lander E.S. Faster multipoint linkage analysis using Fourier transforms. J. Comput. Biol. 5:1998;1-7
13. Lathrop G.M., Lalouel J.M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet. 37:1985;482-498
14. Leniger T., Kananura C., Hufnagel A., Bertrand S., Bertrand D., Steinelin O.K. A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia. 44:2003;981-985
15. Myers R., Nakamura Y., Leppert M., O'Connell P., Lathrop G.M., Lalouel J.M., White R. Isolation and mapping of a polymorphic DNA sequence (pRMR6) on chromosome 20 [D20S20]. Nucleic Acids Res. 16:1988;9883
16. Nakken K.O., Magnusson A., Steinlein O.K. Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. Epilepsia. 40:1999;88-92
17. J.O. Nwankwo, A.A. Spector, F.E. Domann, A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency, J. Lipid. Res. September 2003.
18. Oldani A., Zucconi M., Asselta R., Modugno M., Bonati M.T., Dalpra L., Malcovati M., Tenchini M.L., Smirne S., Ferini-Strambi L. Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain. 121:1998;205-223
19. Phillips H.A., Favre I., Kirkpatrick M., Zuberi S.M., Goudie D., Heron S.E., Scheffer I.E., Sutherland G.R., Berkovic S.F., Bertrand D., Mulley J.C. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68:2001;225-231
20. Phillips H.A., Scheffer I.E., Crossland K.M., Bhatia K.P., Fish D.R., Marsden C.D., Howell S.J., Stephenson J.B., Tolmie J., Plazzi G., Eeg-Olofsson O., Singh R., Lopes-Cendes I., Andermann E., Andermann F., Berkovic S.F., Mulley J.C. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63:1998;1108-1116
21. Provini F., Plazzi G., Tinuper P., Vandi S., Lugaresi E., Montagna P. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain. 122:1999;1017-1031
22. Rempel N., Heyers S., Engels H., Sleegers E., Steinlein O.K. The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). Hum. Genet. 103:1998;645-653
23. Scheffer I.E. Autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 41:2000;1059-1060
24. Steinlein O.K., Sander T., Stoodt J., Kretz R., Janz D., Propping P. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit α4 with common idiopathic generalized epilepsies. Am. J. Med. Genet. 74:1997;445-449
25. Tenchini M.L., Duga S., Bonati M.T., Asselta R., Oldani A., Zucconi M., Malcovati M., Dalpra L., Ferini-Strambi L. SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep. 22:1999;637-639