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Volumn 128, Issue 2, 2010, Pages 123-130

A locus for juvenile myoclonic epilepsy maps to 2q33-q36

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 2Q; CHROMOSOME 2Q33; CHROMOSOME 2Q36; CLINICAL ARTICLE; FEMALE; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETICS; GENOMICS; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; BRAIN; GENE; PATHOPHYSIOLOGY;

EID: 77955289156     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0831-6     Document Type: Article
Times cited : (11)

References (46)
  • 2
    • 33646339415 scopus 로고    scopus 로고
    • Genes and loci involved in febrile seizures and related epilepsy syndromes
    • 10.1002/humu.20279 1:CAS:528:DC%2BD28XkvFyltLw%3D 16550559
    • D Audenaert C Van Broeckhoven P De Jonghe 2006 Genes and loci involved in febrile seizures and related epilepsy syndromes Hum Mutat 27 391 401 10.1002/humu.20279 1:CAS:528:DC%2BD28XkvFyltLw%3D 16550559
    • (2006) Hum Mutat , vol.27 , pp. 391-401
    • Audenaert, D.1    Van Broeckhoven, C.2    De Jonghe, P.3
  • 3
    • 0033364824 scopus 로고    scopus 로고
    • A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    • 10.1086/302593 1:STN:280:DC%2BD3cvnsFeltg%3D%3D 10486327
    • S Baulac I Gourfinkel-An F Picard M Rosenberg-Bourgin JF Prud'homme M Baulac A Brice E LeGuern 1999 A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33 Am J Hum Genet 65 1078 1085 10.1086/302593 1:STN:280:DC%2BD3cvnsFeltg%3D%3D 10486327
    • (1999) Am J Hum Genet , vol.65 , pp. 1078-1085
    • Baulac, S.1    Gourfinkel-An, I.2    Picard, F.3    Rosenberg-Bourgin, M.4    Prud'Homme, J.F.5    Baulac, M.6    Brice, A.7    Leguern, E.8
  • 5
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • 10.1086/302011 1:STN:280:DyaK1czos1SrsA%3D%3D 9718341
    • KW Broman JC Murray VC Sheffield RL White JL Weber 1998 Comprehensive human genetic maps: individual and sex-specific variation in recombination Am J Hum Genet 63 861 869 10.1086/302011 1:STN:280:DyaK1czos1SrsA%3D%3D 9718341
    • (1998) Am J Hum Genet , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5
  • 6
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification, Terminology of the International League Against Epilepsy. 10.1111/j.1528-1157.1989.tb05316.x
    • Commission on Classification, Terminology of the International League Against Epilepsy 1989 Proposal for revised classification of epilepsies and epileptic syndromes Epilepsia 30 389 399 10.1111/j.1528-1157.1989.tb05316.x
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 10
    • 0026096204 scopus 로고
    • Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
    • 1:STN:280:DyaK38%2FhvVyluw%3D%3D 1922810
    • M Durner T Sander DA Greenberg K Johnson G Beck-Mannagetta D Janz 1991 Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients Neurology 41 1651 1655 1:STN:280: DyaK38%2FhvVyluw%3D%3D 1922810
    • (1991) Neurology , vol.41 , pp. 1651-1655
    • Durner, M.1    Sander, T.2    Greenberg, D.A.3    Johnson, K.4    Beck-Mannagetta, G.5    Janz, D.6
  • 12
    • 0033910736 scopus 로고    scopus 로고
    • Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    • 10.1086/302909 1:CAS:528:DC%2BD3cXntV2iurg%3D 10762541
    • A Escayg M De Waard DD Lee D Bichet P Wolf T Mayer J Johnston R Baloh T Sander MH Meisler 2000 Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia Am J Hum Genet 66 1531 1539 10.1086/302909 1:CAS:528:DC%2BD3cXntV2iurg%3D 10762541
    • (2000) Am J Hum Genet , vol.66 , pp. 1531-1539
    • Escayg, A.1    De Waard, M.2    Lee, D.D.3    Bichet, D.4    Wolf, P.5    Mayer, T.6    Johnston, J.7    Baloh, R.8    Sander, T.9    Meisler, M.H.10
  • 14
    • 0035208272 scopus 로고    scopus 로고
    • Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2
    • 10.1093/brain/124.12.2459 1:STN:280:DC%2BD3MnovFKitQ%3D%3D 11701600
    • R Guerrini P Bonanni A Patrignani P Brown L Parmeggiani P Grosse P Brovedani F Moro P Aridon R Carrozzo G Casari 2001 Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 Brain 124 2459 2475 10.1093/brain/124.12.2459 1:STN:280:DC%2BD3MnovFKitQ%3D%3D 11701600
    • (2001) Brain , vol.124 , pp. 2459-2475
    • Guerrini, R.1    Bonanni, P.2    Patrignani, A.3    Brown, P.4    Parmeggiani, L.5    Grosse, P.6    Brovedani, P.7    Moro, F.8    Aridon, P.9    Carrozzo, R.10    Casari, G.11
  • 15
    • 34250379017 scopus 로고    scopus 로고
    • A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14
    • 10.1007/s00439-007-0360-0 17431681
    • A Kapoor R Ratnapriya G Kuruttukulam A Anand 2007 A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14 Hum Genet 121 655 662 10.1007/s00439-007-0360-0 17431681
    • (2007) Hum Genet , vol.121 , pp. 655-662
    • Kapoor, A.1    Ratnapriya, R.2    Kuruttukulam, G.3    Anand, A.4
  • 16
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • 1:CAS:528:DyaK28XjslaktLo%3D 8651312
    • L Kruglyak MJ Daly MP Reeve-Daly ES Lander 1996 Parametric and nonparametric linkage analysis: a unified multipoint approach Am J Hum Genet 58 1347 1363 1:CAS:528:DyaK28XjslaktLo%3D 8651312
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 18
    • 0342499587 scopus 로고
    • Strategies for multilocus linkage analysis in humans
    • 10.1073/pnas.81.11.3443 1:STN:280:DyaL2c3itF2ktw%3D%3D 6587361
    • GM Lathrop JM Lalouel C Julier J Ott 1984 Strategies for multilocus linkage analysis in humans Proc Natl Acad Sci 81 3443 3446 10.1073/pnas.81.11. 3443 1:STN:280:DyaL2c3itF2ktw%3D%3D 6587361
    • (1984) Proc Natl Acad Sci , vol.81 , pp. 3443-3446
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 20
    • 0033912108 scopus 로고    scopus 로고
    • A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2
    • 10.1086/302768 1:CAS:528:DC%2BD3cXitFyitb8%3D 10677328
    • I Lopes-Cendes IE Scheffer SF Berkovic M Rousseau E Andermann GA Rouleau 2000 A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2 Am J Hum Genet 66 698 701 10.1086/302768 1:CAS:528: DC%2BD3cXitFyitb8%3D 10677328
    • (2000) Am J Hum Genet , vol.66 , pp. 698-701
    • Lopes-Cendes, I.1    Scheffer, I.E.2    Berkovic, S.F.3    Rousseau, M.4    Andermann, E.5    Rouleau, G.A.6
  • 21
    • 42149183002 scopus 로고    scopus 로고
    • Benign adult familial myoclonic epilepsy (BAFME): Evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
    • 10.1007/s10048-008-0118-4 1:CAS:528:DC%2BD1cXkslGqtrk%3D 18231815
    • F Madia P Striano C Di Bonaventura A de Falco FA de Falco M Manfredi G Casari S Striano C Minetti F Zara 2008 Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families Neurogenetics 9 139 142 10.1007/s10048-008-0118-4 1:CAS:528:DC%2BD1cXkslGqtrk%3D 18231815
    • (2008) Neurogenetics , vol.9 , pp. 139-142
    • Madia, F.1    Striano, P.2    Di Bonaventura, C.3    De Falco, A.4    De Falco, F.A.5    Manfredi, M.6    Casari, G.7    Striano, S.8    Minetti, C.9    Zara, F.10
  • 23
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS +) on chromosome 2q24-q33
    • 10.1086/302621 1:CAS:528:DyaK1MXns1Clu70%3D 10521305
    • B Moulard M Guipponi D Chaigne D Mouthon C Buresi A Malafosse 1999 Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS +) on chromosome 2q24-q33 Am J Hum Genet 65 1396 1400 10.1086/302621 1:CAS:528:DyaK1MXns1Clu70%3D 10521305
    • (1999) Am J Hum Genet , vol.65 , pp. 1396-1400
    • Moulard, B.1    Guipponi, M.2    Chaigne, D.3    Mouthon, D.4    Buresi, C.5    Malafosse, A.6
  • 26
    • 0028224390 scopus 로고
    • Juvenile myoclonic epilepsy: A 5-year prospective study
    • 10.1111/j.1528-1157.1994.tb02432.x 1:STN:280:DyaK2c3gvVCktg%3D%3D 8156946
    • CP Panayiotopoulos T Obeid AR Tahan 1994 Juvenile myoclonic epilepsy: a 5-year prospective study Epilepsia 35 285 296 10.1111/j.1528-1157.1994.tb02432.x 1:STN:280:DyaK2c3gvVCktg%3D%3D 8156946
    • (1994) Epilepsia , vol.35 , pp. 285-296
    • Panayiotopoulos, C.P.1    Obeid, T.2    Tahan, A.R.3
  • 27
    • 0032834017 scopus 로고    scopus 로고
    • A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
    • 10.1002/1531-8249(199910)46:4 <671::AID-ANA20>3.0.CO;2-5 1:CAS:528:DyaK1MXmvVGiur8%3D 10514109
    • A Peiffer J Thompson C Charlier B Otterud T Varvil C Pappas C Barnitz K Gruenthal R Kuhn M Leppert 1999 A locus for febrile seizures (FEB3) maps to chromosome 2q23-24 Ann Neurol 46 671 678 10.1002/1531-8249(199910)46:4<671:: AID-ANA20>3.0.CO;2-5 1:CAS:528:DyaK1MXmvVGiur8%3D 10514109
    • (1999) Ann Neurol , vol.46 , pp. 671-678
    • Peiffer, A.1    Thompson, J.2    Charlier, C.3    Otterud, B.4    Varvil, T.5    Pappas, C.6    Barnitz, C.7    Gruenthal, K.8    Kuhn, R.9    Leppert, M.10
  • 28
    • 12344297397 scopus 로고    scopus 로고
    • Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: Evidence for linkage on chromosomes 7q32 and 16p13
    • 10.1093/hmg/ddi018 1:CAS:528:DC%2BD2MXitFGltg%3D%3D 15548544
    • D Pinto B Westland GJ de Haan G Rudolf BM da Silva E Hirsch D Lindhout DG Trenité BP Koeleman 2005 Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13 Hum Mol Genet 14 171 178 10.1093/hmg/ddi018 1:CAS:528:DC%2BD2MXitFGltg%3D%3D 15548544
    • (2005) Hum Mol Genet , vol.14 , pp. 171-178
    • Pinto, D.1    Westland, B.2    De Haan, G.J.3    Rudolf, G.4    Da Silva, B.M.5    Hirsch, E.6    Lindhout, D.7    Trenité, D.G.8    Koeleman, B.P.9
  • 29
    • 0031736136 scopus 로고    scopus 로고
    • Prevalence of photoparoxysmal response among South Indian epilepsy patients
    • 10.1016/S1059-1311(05)80009-3 1:STN:280:DyaK1M%2FitlejsA%3D%3D 9808116
    • K Radhakrishnan SD Nayak VS Nandini A Venugopal 1998 Prevalence of photoparoxysmal response among South Indian epilepsy patients Seizure 7 397 401 10.1016/S1059-1311(05)80009-3 1:STN:280:DyaK1M%2FitlejsA%3D%3D 9808116
    • (1998) Seizure , vol.7 , pp. 397-401
    • Radhakrishnan, K.1    Nayak, S.D.2    Nandini, V.S.3    Venugopal, A.4
  • 32
    • 0036774137 scopus 로고    scopus 로고
    • Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
    • 10.1016/S0920-1211(02)00152-3 1:CAS:528:DC%2BD38XotVeku70%3D 12399075
    • T Sander MR Toliat A Heils G Leschik C Becker F Ruschendorf K Rohde S Mundlos P Nurnberg 2002 Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy Epilepsy Res 51 249 255 10.1016/S0920-1211(02)00152-3 1:CAS:528: DC%2BD38XotVeku70%3D 12399075
    • (2002) Epilepsy Res , vol.51 , pp. 249-255
    • Sander, T.1    Toliat, M.R.2    Heils, A.3    Leschik, G.4    Becker, C.5    Ruschendorf, F.6    Rohde, K.7    Mundlos, S.8    Nurnberg, P.9
  • 33
    • 33750583414 scopus 로고    scopus 로고
    • The spectrum of benign infantile seizures
    • 10.1016/j.eplepsyres.2006.01.018 16837167
    • N Specchio F Vigevano 2006 The spectrum of benign infantile seizures Epilepsy Res 70 Suppl 1 S156 S167 10.1016/j.eplepsyres.2006.01.018 16837167
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Specchio, N.1    Vigevano, F.2
  • 37
    • 0141828609 scopus 로고    scopus 로고
    • Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands
    • 10.1016/S1059-1311(03)00049-9 1:STN:280:DC%2BD3svislKgug%3D%3D 12967578
    • J Vijai PJ Cherian PN Stlaja A Anand K Radhakrishnan 2003 Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands Seizure 12 490 496 10.1016/S1059-1311(03)00049-9 1:STN:280: DC%2BD3svislKgug%3D%3D 12967578
    • (2003) Seizure , vol.12 , pp. 490-496
    • Vijai, J.1    Cherian, P.J.2    Stlaja, P.N.3    Anand, A.4    Radhakrishnan, K.5
  • 38
    • 0026057715 scopus 로고
    • Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6
    • 10.1002/ajmg.1320380109 1:STN:280:DyaK3M7ovFansw%3D%3D1901452
    • KA Weissbecker M Durner D Janz A Scaramelli RS Sparkes MA Spence 1991 Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6 Am J Med Genet 38 32 36 10.1002/ajmg.1320380109 1:STN:280:DyaK3M7ovFansw%3D%3D 1901452
    • (1991) Am J Med Genet , vol.38 , pp. 32-36
    • Weissbecker, K.A.1    Durner, M.2    Janz, D.3    Scaramelli, A.4    Sparkes, R.S.5    Spence, M.A.6
  • 40
    • 77956063436 scopus 로고    scopus 로고
    • http://www.ncbi.nlm.nih.gov/mapview/
  • 42
    • 77956060882 scopus 로고    scopus 로고
    • http://www.ncbi.nlm.nih.gov/omim/
  • 44
    • 77956058364 scopus 로고    scopus 로고
    • http://frodo.wi.mit.edu/primer3/
  • 46
    • 77956059044 scopus 로고    scopus 로고
    • http://www.ncbi.nlm.nih.gov/snp


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.