메뉴 건너뛰기




Volumn 107, Issue 5, 2003, Pages 356-362

Phenotypic analysis of juvenile myoclonic epilepsy in Indian families

Author keywords

Absence seizures; Clinical heterogeneity; Genetics; Hereditary; Juvenile myoclonic epilepsy; Sodium valproate

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; TOPIRAMATE; VALPROIC ACID;

EID: 0038015768     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2003.00085.x     Document Type: Article
Times cited : (19)

References (42)
  • 1
    • 0022361056 scopus 로고
    • Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy)
    • JANZ D. Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). Acta Neurol Scand 1985;72:449-59.
    • (1985) Acta Neurol Scand , vol.72 , pp. 449-459
    • Janz, D.1
  • 2
    • 0024531240 scopus 로고
    • Juvenile myoclonic epilepsy. Epilepsy with impulsive petit mal
    • JANZ D. Juvenile myoclonic epilepsy. Epilepsy with impulsive petit mal. Cleve Clin J Med 1989;56 (Suppl. 1):S23-S33.
    • (1989) Cleve Clin J Med , vol.56 , Issue.SUPPL. 1
    • Janz, D.1
  • 3
    • 0023881975 scopus 로고
    • Juvenile myoclonic epilepsy: A study in Saudi Arabia
    • OBEID T, PANAYIOTOPOULOS CP. Juvenile myoclonic epilepsy: a study in Saudi Arabia. Epilepsia 1988;29:280-2.
    • (1988) Epilepsia , vol.29 , pp. 280-282
    • Obeid, T.1    Panayiotopoulos, C.P.2
  • 6
    • 0021342642 scopus 로고
    • Some clinical and EEG aspects of benign juvenile myoclonic epilepsy
    • ASCONAPE J, PENRY K. Some clinical and EEG aspects of benign juvenile myoclonic epilepsy. Epilepsia 1984;25: 108-14.
    • (1984) Epilepsia , vol.25 , pp. 108-114
    • Asconape, J.1    Penry, K.2
  • 8
    • 0028224390 scopus 로고
    • Juvenile myoclonic epilepsy: A 5 year prospective study
    • PANAYIOTPOULOS CP, OBEID T, TAHAN AR. Juvenile myoclonic epilepsy: a 5 year prospective study. Epilepsia 1994;35:285-96.
    • (1994) Epilepsia , vol.35 , pp. 285-296
    • Panayiotpoulos, C.P.1    Obeid, T.2    Tahan, A.R.3
  • 9
    • 0030479412 scopus 로고    scopus 로고
    • Disease expression among probands with juvenile myoclonic epilepsy and their family members in two population groups
    • JAIN S, DIXIT SN, ANDREWS PI, RADTKE R, MAHESHWARI MC, MCNAMARA JO. Disease expression among probands with juvenile myoclonic epilepsy and their family members in two population groups. J Epilepsy 1996;9:259-67.
    • (1996) J Epilepsy , vol.9 , pp. 259-267
    • Jain, S.1    Dixit, S.N.2    Andrews, P.I.3    Radtke, R.4    Maheshwari, M.C.5    McNamara, J.O.6
  • 11
    • 0015699587 scopus 로고
    • On the genetics of primary generalized epilepsy with sporadic myoclonus of impulsive petit mal type
    • TSUBOI T, CHRISTIAN W. On the genetics of primary generalized epilepsy with sporadic myoclonus of impulsive petit mal type. Hum Genet 1973;19:155-82.
    • (1973) Hum Genet , vol.19 , pp. 155-182
    • Tsuboi, T.1    Christian, W.2
  • 12
    • 0023712810 scopus 로고
    • Juvenile myoclonic epilepsy may be linked to the BF and HLA loci human chromosomes
    • GREENBERG DA, DELGADO-ESCUETA AV, WIDELITZ H et al. Juvenile myoclonic epilepsy may be linked to the BF and HLA loci human chromosomes. Am J Med Genet 1988;31:185-92.
    • (1988) Am J Med Genet , vol.31 , pp. 185-192
    • Greenberg, D.A.1    Delgado-Escueta, A.V.2    Widelitz, H.3
  • 13
    • 0002015247 scopus 로고
    • Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with impulsive petit-mal)
    • Beck-Mannagetta G, Anderson VE, Doose H, Janz D eds. Berlin: Springer-Verlag
    • JANZ D, DURNER M, BECK-MANNAGETTA G et al. Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with impulsive petit-mal). In: BECK-MANNAGETTA G, ANDERSON VE, DOOSE H, JANZ D eds. Genetics of the epilepsies. Berlin: Springer-Verlag, 1989;43-66.
    • (1989) Genetics of the Epilepsies , pp. 43-66
    • Janz, D.1    Durner, M.2    Beck-Mannagetta, G.3
  • 14
    • 0024321057 scopus 로고
    • Juvenile myoclonic epilepsy: An autosomal recessive disease
    • PANAYIOTOPOULOS CP, OBEID T. Juvenile myoclonic epilepsy: an autosomal recessive disease. Ann Neurol 1989;25:440-3.
    • (1989) Ann Neurol , vol.25 , pp. 440-443
    • Panayiotopoulos, C.P.1    Obeid, T.2
  • 16
    • 0025671875 scopus 로고
    • Gene mapping in the idiopathic generalized epilepsies: Juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, early childhood myoclonic epilepsy
    • DELGADO-ESCUETA, AV, GREENBERG DA, WEISSBECKER K. Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, early childhood myoclonic epilepsy. Epilepsia 1990;31 (Suppl. 3):S19-S29.
    • (1990) Epilepsia , vol.31 , Issue.SUPPL. 3
    • Delgado-Escueta, A.V.1    Greenberg, D.A.2    Weissbecker, K.3
  • 17
    • 0027525688 scopus 로고
    • Concordance of clinical forms of epilepsy in families with several affected members
    • ITALIAN LEAGUE AGAINST EPILEPSY GENETIC COLLABORATIVE GROUP. Concordance of clinical forms of epilepsy in families with several affected members. Epilepsia 1993;34:819-26.
    • (1993) Epilepsia , vol.34 , pp. 819-826
  • 18
    • 0031973879 scopus 로고    scopus 로고
    • Juvenile myoclonic epilepsy: Disease expression among Indian families
    • JAIN S, PADMA MV, PURI A, MAHESHWARI MC. Juvenile myoclonic epilepsy: disease expression among Indian families. Acta Neurol Scand 1998;97:1-7.
    • (1998) Acta Neurol Scand , vol.97 , pp. 1-7
    • Jain, S.1    Padma, M.V.2    Puri, A.3    Maheshwari, M.C.4
  • 19
    • 0024462368 scopus 로고
    • Mapping of the gene for juvenile myoclonic epilepsy
    • DELGADO-ESCUETA AV, GREENBERG DA, TREIMAN L et al. Mapping of the gene for juvenile myoclonic epilepsy. Epilepsia 1989;30 (Suppl. 4):S8-S18.
    • (1989) Epilepsia , vol.30 , Issue.SUPPL. 4
    • Delgado-Escueta, A.V.1    Greenberg, D.A.2    Treiman, L.3
  • 20
    • 0026096204 scopus 로고
    • Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
    • DURNER M, SANDER T, GREENBERG DA, JOHNSON K, BECKMANAGETTA G, JANZ D. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991;41:1651-5.
    • (1991) Neurology , vol.41 , pp. 1651-1655
    • Durner, M.1    Sander, T.2    Greenberg, D.A.3    Johnson, K.4    Beckmanagetta, G.5    Janz, D.6
  • 22
    • 0027362601 scopus 로고
    • 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
    • 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;53:652-62.
    • (1993) Am J Hum Genet , vol.53 , pp. 652-662
    • Whitehouse, W.P.1    Rees, M.2    Curtis, D.3
  • 23
    • 0029013275 scopus 로고
    • Juvenile myoclonic epilepsy locus in chromosome 6p21.2p11: Linkage to convulsions and electroencephalography trait
    • LIU AW, DELGADO-ESCUETA AV, SERRATOSA JM et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-81.
    • (1995) Am J Hum Genet , vol.57 , pp. 368-381
    • Liu, A.W.1    Delgado-Escueta, A.V.2    Serratosa, J.M.3
  • 24
    • 8544254723 scopus 로고    scopus 로고
    • Genetic mapping of a minor susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
    • ELMSLIE FV, REES M, WILLIAMSON MP et al. Genetic mapping of a minor susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;59:1329-34.
    • (1997) Hum Mol Genet , vol.59 , pp. 1329-1334
    • Elmslie, F.V.1    Rees, M.2    Williamson, M.P.3
  • 25
    • 0028082058 scopus 로고
    • Progress in mapping human epilepsy genes
    • DELGADO-ESCUETA AV, SERRATOSA JM, LIU A et al. Progress in mapping human epilepsy genes. Epilepsia 1994;35 (Suppl. 1):S29-S40.
    • (1994) Epilepsia , vol.35 , Issue.SUPPL. 1
    • Delgado-Escueta, A.V.1    Serratosa, J.M.2    Liu, A.3
  • 26
    • 0024317220 scopus 로고
    • Proposal for classification of epilepsies and epilepsy syndromes
    • COMMISSION ON CLASSIFICATION and TERMINOLOGY OF THE INTERNATIONAL LEAGUE AGAINST EPILEPSY. Proposal for classification of epilepsies and epilepsy syndromes. Epilepsia 1989;30:389-99.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 27
    • 0031050212 scopus 로고    scopus 로고
    • Occurrence of epilepsies in family members of Indian probands with different epilepsy syndromes
    • JAIN S, PADMA MV, PURI A, JYOTI MAHESHWARI MC. Occurrence of epilepsies in family members of Indian probands with different epilepsy syndromes. Epilepsia 1997;38:237-44.
    • (1997) Epilepsia , vol.38 , pp. 237-244
    • Jain, S.1    Padma, M.V.2    Puri, A.3    Jyoti Maheshwari, M.C.4
  • 28
    • 0037616847 scopus 로고    scopus 로고
    • EEG photosensitivity and response to valproate segregate together in Indian with juvenile myoclonic epilepsy
    • JAIN S, PADMA MV, MAHESHWARI MC. EEG photosensitivity and response to valproate segregate together in Indian with juvenile myoclonic epilepsy. Neurol J South East Asia 1999;4:61-6.
    • (1999) Neurol J South East Asia , vol.4 , pp. 61-66
    • Jain, S.1    Padma, M.V.2    Maheshwari, M.C.3
  • 30
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • STEINLEIN OK, MULLEY JC, PROPPING P et al. A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-3.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 31
    • 0002952551 scopus 로고
    • Primary generalized epilepsies - Absence seizures and juvenile myoclonic epilepsy: An Indian experience
    • AIIMS, New Delhi
    • MANI KS, RANGAN G. Primary generalized epilepsies - absence seizures and juvenile myoclonic epilepsy: an Indian experience. In: Proceedings of first Indo-US workshop on genetics in epilepsies. AIIMS, New Delhi, 1995; 50-6.
    • (1995) Proceedings of First Indo-US Workshop on Genetics in Epilepsies , pp. 50-56
    • Mani, K.S.1    Rangan, G.2
  • 32
    • 13144302955 scopus 로고    scopus 로고
    • Clinical observations of juvenile myoclonic epilepsy in 131 patients: A study in South India
    • MURTHY JMK, ROA CM, MEENA AK. Clinical observations of juvenile myoclonic epilepsy in 131 patients: a study in South India. Seizure 1998;7:43-7.
    • (1998) Seizure , vol.7 , pp. 43-47
    • Murthy, J.M.K.1    Roa, C.M.2    Meena, A.K.3
  • 33
    • 0028205511 scopus 로고
    • Incidence of photosensitive epilepsy in unselected Indian epileptic population
    • SALEEM SM, THOMAS M, JAIN S, MAHESHWARI MC. Incidence of photosensitive epilepsy in unselected Indian epileptic population. Acta Neurol Scand 1994;89:5-8.
    • (1994) Acta Neurol Scand , vol.89 , pp. 5-8
    • Saleem, S.M.1    Thomas, M.2    Jain, S.3    Maheshwari, M.C.4
  • 34
    • 0031024530 scopus 로고    scopus 로고
    • The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset
    • JANZ D. The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset. Epilepsia 1997;38:4-11.
    • (1997) Epilepsia , vol.38 , pp. 4-11
    • Janz, D.1
  • 35
    • 0030911458 scopus 로고    scopus 로고
    • Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy
    • JAIN S, PADMA MV, MAHESHWARI MC. Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy. Acta Neurol Scand 1997;95:263-7.
    • (1997) Acta Neurol Scand , vol.95 , pp. 263-267
    • Jain, S.1    Padma, M.V.2    Maheshwari, M.C.3
  • 36
    • 0020373487 scopus 로고
    • Sodium valproate: Monotherapy and polytherapy
    • COVANIS A, GUPTA AK, JEAVONS PM. Sodium valproate: monotherapy and polytherapy. Epilepsia 1982;23:693-720.
    • (1982) Epilepsia , vol.23 , pp. 693-720
    • Covanis, A.1    Gupta, A.K.2    Jeavons, P.M.3
  • 38
    • 0027568654 scopus 로고
    • Characterization of intractable JME: New perspectives on primary generalized seizures
    • DASHEIFF RM, RITACCIO AL. Characterization of intractable JME: new perspectives on primary generalized seizures. Seizure 1993;2:11-9.
    • (1993) Seizure , vol.2 , pp. 11-19
    • Dasheiff, R.M.1    Ritaccio, A.L.2
  • 41
    • 0000677424 scopus 로고    scopus 로고
    • Simple reflex epilepsies
    • Engle J. Jr, Pedley TA eds. Philadelphia: Lippincott-Raven Publishers
    • BINNIE CD. Simple reflex epilepsies. In: ENGLE J. Jr, PEDLEY TA eds Epilepsy: a comprehensive textbook. Philadelphia: Lippincott-Raven Publishers, 1997;2489-505.
    • (1997) Epilepsy: A Comprehensive Textbook , pp. 2489-2505
    • Binnie, C.D.1
  • 42
    • 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;31:184-9.
    • (2002) Nat Genet , vol.31 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.