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Volumn 28, Issue 1, 2013, Pages

The quest for Juvenile Myoclonic Epilepsy genes

Author keywords

Genome wide associations; Juvenile myoclonic epilepsy genes; Linkage

Indexed keywords

BRAIN PROTEIN; CALCIUM CHANNEL BETA4 SUBUNIT; CALCIUM CHANNEL SENSOR RECEPTOR; CONNEXIN 36; EF HAND CONTAINING GENE PROTEIN; GABA RECEPTOR ALPHA ONE SUBUNIT; GABA RECEPTOR DELTA SUBUNIT; MALIC ENZYME2; MYOCLONIN1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84878967733     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2012.06.033     Document Type: Review
Times cited : (57)

References (37)
  • 2
    • 0003808932 scopus 로고
    • Georg Thieme Verlag, Stuttgart, Germany
    • Janz D. Die Epilepsien 1969, Georg Thieme Verlag, Stuttgart, Germany.
    • (1969) Die Epilepsien
    • Janz, D.1
  • 4
    • 57249096594 scopus 로고    scopus 로고
    • Advances in genetics of juvenile myoclonic epilepsies
    • Delgado-Escueta A.V. Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr 2007, 7:61-67.
    • (2007) Epilepsy Curr , vol.7 , pp. 61-67
    • Delgado-Escueta, A.V.1
  • 5
    • 0032796302 scopus 로고    scopus 로고
    • Prevalence of epilepsy in rural Bolivia: a door-to-door survey
    • Nicoletti A., Reggio A., Bartoloni A., et al. Prevalence of epilepsy in rural Bolivia: a door-to-door survey. Neurology 1999, 53(9):2064-2069.
    • (1999) Neurology , vol.53 , Issue.9 , pp. 2064-2069
    • Nicoletti, A.1    Reggio, A.2    Bartoloni, A.3
  • 6
    • 84871719298 scopus 로고    scopus 로고
    • The next decade of research in the basic mechanisms of the epilepsies
    • Oxford University Press, J.L. Noebeles, M. Avoli, M.A. Rogawski, R.W. Olsen, A.V. Delgado-Escueta (Eds.)
    • Noebels J.L., Avoli M., Rogawski M.A., Olsen R.W., Delgado-Escueta A.V. The next decade of research in the basic mechanisms of the epilepsies. Jasper's basic mechanisms of the epilepsies 2012, 3-11. Oxford University Press. J.L. Noebeles, M. Avoli, M.A. Rogawski, R.W. Olsen, A.V. Delgado-Escueta (Eds.).
    • (2012) Jasper's basic mechanisms of the epilepsies , pp. 3-11
    • Noebels, J.L.1    Avoli, M.2    Rogawski, M.A.3    Olsen, R.W.4    Delgado-Escueta, A.V.5
  • 7
    • 84857046912 scopus 로고    scopus 로고
    • The Arabian cradle: mitochondrial relicts of the first steps along the Southern route out of Africa
    • Fernandes V., Alshamali F., Alves M.L., et al. The Arabian cradle: mitochondrial relicts of the first steps along the Southern route out of Africa. AJHG 2012, 90:347-355.
    • (2012) AJHG , vol.90 , pp. 347-355
    • Fernandes, V.1    Alshamali, F.2    Alves, M.L.3
  • 8
    • 84857059207 scopus 로고    scopus 로고
    • The expansion of mtDNA haplogroup L3 within and out of Africa
    • Soares P., Alshamali F., Pereira J.B., et al. The expansion of mtDNA haplogroup L3 within and out of Africa. Mol Biol Evol 2012, 29(3):915-927.
    • (2012) Mol Biol Evol , vol.29 , Issue.3 , pp. 915-927
    • Soares, P.1    Alshamali, F.2    Pereira, J.B.3
  • 9
    • 58549117665 scopus 로고    scopus 로고
    • Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups
    • Perego U.A., Achilli A., Angerhofer N., et al. Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups. Curr Biol 2009, 19:1-8.
    • (2009) Curr Biol , vol.19 , pp. 1-8
    • Perego, U.A.1    Achilli, A.2    Angerhofer, N.3
  • 10
    • 33847034067 scopus 로고    scopus 로고
    • The 'human revolution' in lowland tropical Southeast Asia: the antiquity and behavior of anatomically modern humans at Niah Dave (Sarawak, Borneo)
    • Barker G., Barton H., Bird M., et al. The 'human revolution' in lowland tropical Southeast Asia: the antiquity and behavior of anatomically modern humans at Niah Dave (Sarawak, Borneo). J Hum Evol 2007, 52:243-261.
    • (2007) J Hum Evol , vol.52 , pp. 243-261
    • Barker, G.1    Barton, H.2    Bird, M.3
  • 11
    • 0343158231 scopus 로고    scopus 로고
    • Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design
    • Wayne State University Press, Detroit, Michigan
    • Terwilliger J.D., Göring H.H. Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum biology 2000, 72(1):63-132. Wayne State University Press, Detroit, Michigan.
    • (2000) Hum biology , pp. 63-132
    • Terwilliger, J.D.1    Göring, H.H.2
  • 12
  • 13
    • 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
    • Escayg A., De Waard M., Lee D.D., et al. 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 2000, 66(5):1531-1539.
    • (2000) Am J Hum Genet , vol.66 , Issue.5 , pp. 1531-1539
    • Escayg, A.1    De Waard, M.2    Lee, D.D.3
  • 14
    • 51549119529 scopus 로고    scopus 로고
    • An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene
    • Kapoor A., Satishchandra P., Ratnapriya R., et al. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol 2008, 64(2):158-167.
    • (2008) Ann Neurol , vol.64 , Issue.2 , pp. 158-167
    • Kapoor, A.1    Satishchandra, P.2    Ratnapriya, R.3
  • 15
    • 18544364797 scopus 로고    scopus 로고
    • Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
    • Cossette P., Liu L., Brisebois K., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002, 31(2):184-189.
    • (2002) Nat Genet , vol.31 , Issue.2 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3
  • 16
    • 3242705038 scopus 로고    scopus 로고
    • GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
    • Dibbens L.M., Feng H.J., Richards M.C., et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 2004, 13(13):1315-1319.
    • (2004) Hum Mol Genet , vol.13 , Issue.13 , pp. 1315-1319
    • Dibbens, L.M.1    Feng, H.J.2    Richards, M.C.3
  • 17
    • 3543026306 scopus 로고    scopus 로고
    • Mutations in EFHC1 cause juvenile myoclonic epilepsy
    • Suzuki T., Delgado-Escueta A.V., Aguan K., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004, 36(8):842-849.
    • (2004) Nat Genet , vol.36 , Issue.8 , pp. 842-849
    • Suzuki, T.1    Delgado-Escueta, A.V.2    Aguan, K.3
  • 18
    • 0043167789 scopus 로고    scopus 로고
    • BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy
    • Pal D.K., Evgrafov O.V., Tabares P., Zhang F., Durner M., Greenberg D.A. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 2003, 73(2):261-270.
    • (2003) Am J Hum Genet , vol.73 , Issue.2 , pp. 261-270
    • Pal, D.K.1    Evgrafov, O.V.2    Tabares, P.3    Zhang, F.4    Durner, M.5    Greenberg, D.A.6
  • 19
    • 14844307755 scopus 로고    scopus 로고
    • Association of the connexin36 gene with juvenile myoclonic epilepsy
    • Mas C., Taske N., Deutsch S., et al. Association of the connexin36 gene with juvenile myoclonic epilepsy. J Med Genet 2004, 41(7):e93.
    • (2004) J Med Genet , vol.41 , Issue.7
    • Mas, C.1    Taske, N.2    Deutsch, S.3
  • 20
    • 19944384885 scopus 로고    scopus 로고
    • Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy
    • Greenberg D.A., Cayanis E., Strug L., et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 2005, 76(1):139-146.
    • (2005) Am J Hum Genet , vol.76 , Issue.1 , pp. 139-146
    • Greenberg, D.A.1    Cayanis, E.2    Strug, L.3
  • 21
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • Roach J.C., Glusman G., Smit A.F., et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010, 328(5978):636-639.
    • (2010) Science , vol.328 , Issue.5978 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 22
    • 78650549600 scopus 로고    scopus 로고
    • Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
    • Robinson P.N. Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biol 2010, 11(12):144.
    • (2010) Genome Biol , vol.11 , Issue.12 , pp. 144
    • Robinson, P.N.1
  • 23
    • 79960266560 scopus 로고    scopus 로고
    • Strategies for exome and genome sequence data analysis in disease-gene discovery projects
    • Robinson P.N., Krawitz P., Mundlos S. Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 2011, 80(2):127-132.
    • (2011) Clin Genet , vol.80 , Issue.2 , pp. 127-132
    • Robinson, P.N.1    Krawitz, P.2    Mundlos, S.3
  • 24
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massive parallel sequencing of 12 human exomes
    • Ng S.B., Turner E.H., Robertson P.D., et al. Targeted capture and massive parallel sequencing of 12 human exomes. Nature 2009, 461:272-276.
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 25
    • 84863116742 scopus 로고    scopus 로고
    • 1000 genomes project consortium. A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur D.G., Balasubramanian S., Frankish A., et al. 1000 genomes project consortium. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012, 335(6070):823-828.
    • (2012) Science , vol.335 , Issue.6070 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3
  • 26
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • Veeramah K.R., O'Brien J.E., Meisler M.H., et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012, 90(3):502-510.
    • (2012) Am J Hum Genet , vol.90 , Issue.3 , pp. 502-510
    • Veeramah, K.R.1    O'Brien, J.E.2    Meisler, M.H.3
  • 27
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • Wang K., Li M., Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010, 38(16):e164.
    • (2010) Nucleic Acids Res , vol.38 , Issue.16
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 28
    • 32544442006 scopus 로고    scopus 로고
    • Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors
    • Feng H.J., Kang J.Q., Song L., Dibbens L., Mulley J., Macdonald R.L. Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors. J Neurosci 2006, 26(5):1499-1506.
    • (2006) J Neurosci , vol.26 , Issue.5 , pp. 1499-1506
    • Feng, H.J.1    Kang, J.Q.2    Song, L.3    Dibbens, L.4    Mulley, J.5    Macdonald, R.L.6
  • 29
    • 77956201392 scopus 로고    scopus 로고
    • GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors
    • Ding L., Feng H.J., Macdonald R.L., Botzolakis E.J., Hu N., Gallagher M.J. GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. J Biol Chem 2010, 285(34):26390-26405.
    • (2010) J Biol Chem , vol.285 , Issue.34 , pp. 26390-26405
    • Ding, L.1    Feng, H.J.2    Macdonald, R.L.3    Botzolakis, E.J.4    Hu, N.5    Gallagher, M.J.6
  • 30
    • 13044251823 scopus 로고    scopus 로고
    • Attenuated sensitivity to neuroactive steroids in gamma-aminobutyrate type A receptor delta subunit knockout mice
    • Mihalek R.M., Banerjee P.K., Korpi E.R., et al. Attenuated sensitivity to neuroactive steroids in gamma-aminobutyrate type A receptor delta subunit knockout mice. Proc Natl Acad Sci U S A 1999, 96(22):12905-12910.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , Issue.22 , pp. 12905-12910
    • Mihalek, R.M.1    Banerjee, P.K.2    Korpi, E.R.3
  • 31
    • 84865002121 scopus 로고    scopus 로고
    • Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit
    • Arain F.M., Boyd K.L., Gallagher M.J. Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit. Epilepsia 2012, 53(8):e161-e165.
    • (2012) Epilepsia , vol.53 , Issue.8
    • Arain, F.M.1    Boyd, K.L.2    Gallagher, M.J.3
  • 32
    • 61849107443 scopus 로고    scopus 로고
    • Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
    • Suzuki T., Miyamoto H., Nakahari T., et al. Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet 2009, 18(6):1099-1109.
    • (2009) Hum Mol Genet , vol.18 , Issue.6 , pp. 1099-1109
    • Suzuki, T.1    Miyamoto, H.2    Nakahari, T.3
  • 33
    • 0030614535 scopus 로고    scopus 로고
    • Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
    • Burgess D.L., Jones J.M., Meisler M.H., Noebels J.L. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997, 88(3):385-392.
    • (1997) Cell , vol.88 , Issue.3 , pp. 385-392
    • Burgess, D.L.1    Jones, J.M.2    Meisler, M.H.3    Noebels, J.L.4
  • 34
    • 84855987512 scopus 로고    scopus 로고
    • GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy
    • Velisek L., Shang E., Veliskova J., et al. GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. PLoS One 2011, 6(8):e23656.
    • (2011) PLoS One , vol.6 , Issue.8
    • Velisek, L.1    Shang, E.2    Veliskova, J.3
  • 35
    • 4544384631 scopus 로고    scopus 로고
    • Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel
    • Otto J.F., Yang Y., Frankel W.N., Wilcox K.S., White H.S. Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel. Epilepsia 2004, 45(9):1009-1016.
    • (2004) Epilepsia , vol.45 , Issue.9 , pp. 1009-1016
    • Otto, J.F.1    Yang, Y.2    Frankel, W.N.3    Wilcox, K.S.4    White, H.S.5
  • 36
    • 0032746626 scopus 로고    scopus 로고
    • Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI
    • Woermann F.G., Free S.L., Koepp M.J., Sisodiya S.M., Duncan J.S. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain 1999, 122(Pt 11):2101-2108.
    • (1999) Brain , vol.122 , Issue.PART 11 , pp. 2101-2108
    • Woermann, F.G.1    Free, S.L.2    Koepp, M.J.3    Sisodiya, S.M.4    Duncan, J.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.