The Genetics Of Epilepsies

dc.creatorLopes-Cendes I.
dc.date2008
dc.date2015-06-30T19:36:33Z
dc.date2015-11-26T14:46:05Z
dc.date2015-06-30T19:36:33Z
dc.date2015-11-26T14:46:05Z
dc.date.accessioned2018-03-28T21:55:32Z
dc.date.available2018-03-28T21:55:32Z
dc.identifier
dc.identifierJornal De Pediatria. , v. 84, n. 4 SUPPL., p. S33 - S39, 2008.
dc.identifier217557
dc.identifier10.2223/JPED.1800
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-57349120601&partnerID=40&md5=5907dcc023a2e99393d851d11d2cae95
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/106826
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/106826
dc.identifier2-s2.0-57349120601
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1252689
dc.descriptionObjectives: To discuss some of the clinical and molecular genetic aspects of new discoveries in the field of the genetics of the epilepsies and relate these with relevant clues for a better understanding of the mechanisms underlying some of the monogenic epilepsy syndromes. Sources: Many study designs have been performed over the years and these include family-based studies, genetic-epidemiology surveys. More recently, molecular genetics studies and gene discovery strategies have been used to unravel the molecular and cell mechanisms involved in several Mendelian epilepsy syndromes. Summary of the findings: The importance of genetic factors in the epilepsies has been recognized since the time of Hippocrates. Conclusions: In the modern era, many studies have demonstrated the existence of an inherited component in the generalized and focal epilepsies and in the last 2 decades a number of families segregating different types of monogenic epilepsy have been described leading to progresses in the characterization of the molecular defects in these families. Copyright © 2008 by Sociedade Brasileira de Pediatria.
dc.description84
dc.description4 SUPPL.
dc.descriptionS33
dc.descriptionS39
dc.descriptionBerkovic, S.F., Steinlein, O.K., Genetics of partial epilepsies (1999) Adv Neurol, 79, pp. 375-381
dc.descriptionGenetics of focal epilepsies (1999) Clinical aspects and molecular biology, , Berkovic SF, Genton P, Hirsch E, Picard F, editors, London: John Libbey;
dc.descriptionRyan, S.G., Partial epilepsy: Chinks in the armour (1995) Nat Genet, 10, pp. 4-6
dc.descriptionPtacek, L.J., Fu, Y.H., What's new in epilepsy genetics? (2003) Mol Psychiatry, 8, pp. 463-465
dc.descriptionLennox, W.G., Heredity of epilepsy as told by relatives and twins (1951) J Am Med Assoc, 146, pp. 529-536
dc.descriptionMetrakos, K., Metrakos, J.D., Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy (1961) Neurology, 11, pp. 474-483
dc.descriptionAndermann, E., Genetic aspects of the epilepsies (1985) Genetic aspects of human behavior, pp. 129-145. , Sakai T, Tsuboi T, editors, Tokyo: Igaku-Shoin;
dc.descriptionBerkovic, S.F., Howell, R.A., Hay, D.A., Hopper, J.L., Epilepsies in twins: Genetics of the major epilepsy syndromes (1998) Ann Neurol, 43, pp. 435-445
dc.descriptionHarper, P.S., (1993) Practical genetic counseling, , 4th ed. Cambridge: Butterworth-Heinemann;
dc.description(1997) Human genetics: Problems and approaches, , Vogel F, Motulsky AG, editors, 3rd ed. Berlin: Springer;
dc.descriptionOttman, R., Genetics of the partial epilepsies: A review (1989) Epilepsia, 30, pp. 107-111
dc.descriptionLennox, W.G., Lennox, M., (1960) Epilepsy and related disorders, , Boston: Little Brown;
dc.descriptionTsuboi, T., Endo, S., Incidence of seizures and EEG abnormalities among offspring of epileptic patients (1997) Hum Genet, 36, pp. 173-189
dc.descriptionEisner, V., Pauli, L.L., Livingston, S., Hereditary aspects of epilepsy (1959) Bull Johns Hopkins Hosp, 105, pp. 245-271
dc.descriptionOunted, C., Lindsay, J., Norman, R., (1966) Biological factors in temporal lobe epilepsy, , London: Heinemann;
dc.descriptionOttman R, Lee JH, Hauser WA, Risch N. Are generalized and localization-related epilepsies genetically distinct? Ach Neurol. 1998;55:339-44Lander, E.S., Schork, N.J., Genetic dissection of complex traits (1994) Science, 265, pp. 2037-2048
dc.descriptionGu, W., Wevers, A., Schröder, H., Grzeschik, K.H., Derst, C., Brodtkorb, E., The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins (2002) FEBS Lett, 519, pp. 71-76
dc.descriptionKalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Martinelli Boneschi, F., Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features (2002) Nat Genet, 30, pp. 335-341
dc.descriptionInouye, E., Observations on forty twin index cases with chronic epilepsy and their co-twins (1960) J Nerv Ment Dis, 130, pp. 401-416
dc.descriptionOttman, R., Lee, J.H., Risch, N., Hauser, W.A., Susser, M., Clinical indicators of genetic susceptibility to epilepsy (1996) Epilepsia, 37, pp. 353-361
dc.descriptionde Falco, F.A., Striano, P., de Falco, A., Striano, S., Santangelo, R., Perretti, A., Benign adult familial myoclonic epilepsy: Genetic heterogeneity and allelism with ADCME (2003) Neurology, 60, pp. 1381-1385
dc.descriptionHallmann, K., Durner, M., Sander, T., Steinlein, O.K., Mutation analysis of the inwardly rectifying K(+) channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy (2000) Am J Med Genet, 96, pp. 8-11
dc.descriptionHaug, K., Hallmann, K., Rebstock, J., Dullinger, J., Muth, S., Haverkamp, F., The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy (2001) Epilepsy Res, 47, pp. 243-246
dc.descriptionChioza, B., Osei-Lah, A., Wilkie, H., Nashef, L., McCormick, D., Asherson, P., Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes (2002) Epilepsy Res, 52, pp. 107-116
dc.descriptionSander, T., Berlin, W., Gscheidel, N., Wendel, B., Janz, D., Hoehe, M.R., Genetic variation of the human μ-opioid receptor and susceptibility to idiopathic absence epilepsy (2000) Epilepsy Res, 39, pp. 57-61
dc.descriptionSander, T., Toliat, M.R., Heils, A., Leschik, G., Becker, C., Rüschendorf, F., Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002) Epilepsy Res, 51, pp. 249-255
dc.descriptionZara, F., Labuda, M., Garofalo, P.G., Durisotti, C., Bianchi, A., Castellotti, B., Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy (1998) Neurology, 51, pp. 493-498
dc.descriptionGoodwin, H., Curran, N., Chioza, B., Blower, J., Nashef, L., Asherson, P., No association found between polymorphisms in genes enconding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study (2000) Epilepsy Res, 39, pp. 27-31
dc.descriptionHaug, K., Warnstedt, M., Alekov, A.K., Sander, T., Ramírez, A., Poser, B., Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies (2003) Nat Genet, 33, pp. 527-532
dc.descriptionWilkie, H., Osei-Lah, A., Chioza, B., Nashef, L., McCormick, D., Asherson, P., Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy (2002) Neurology, 59, pp. 724-728
dc.descriptionDurner, M., Zhou, G., Fu, D., Abreu, P., Shinnar, S., Resor, S.R., Evidence of linkage of adolescente-onset idiopathic generalized epilepsies to chromosome 8- and genetic heterogenity (1999) Am J Hum Genet, 64, pp. 1411-1419
dc.descriptionSander, T., Windemuth, C., Schulz, H., Saar, K., Gennaro, E., Riggio, C., Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12 (2003) Epilepsia, 44, pp. 32-39
dc.descriptionFong, G.C., Shah, P.U., Gee, M.N., Serratosa, J.M., Castroviejo, I.P., Khan, S., Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: Linkage to chromosome 8q24 (1998) Am J Hum Genet, 63, pp. 1117-1129
dc.descriptionSander, T., Kretz, R., Schulz, H., Sailer, U., Bauer, G., Scaramelli, A., Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24 (1998) Epilepsia, 39, pp. 715-720
dc.descriptionMikami, M., Yasuda, T., Terao, A., Nakamura, M., Ueno, S., Tanabe, H., Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1 (1999) Am J Hum Genet, 65, pp. 745-751
dc.descriptionSugimoto, Y., Morita, R., Amano, K., Fong, C.Y., Shah, P.U., Castroviejo, I.P., Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map (2000) Genomics, 68, pp. 264-272
dc.descriptionHaug, K., Kremerskothen, J., Hallmann, K., Sander, T., Dulliger, J., Raub, B., Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy (2000) Mol Cell Probes, 14, pp. 255-260
dc.descriptionSugimoto, Y., Morita, R., Amano, K., Shah, P.U., Pascual-Castroviejo, I., Khan, S., T-STAR gene: Fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients (2001) Epilepsy Res, 46, pp. 139-144
dc.descriptionSano, A., Mikami, M., Nakamura, M., Ueno, S., Tanabe, H., Kaneko, S., Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy (2002) Epilepsia, 43 (SUPPL. 9), pp. 26-31
dc.descriptionKananura, C., Sander, T., Rajan, S., Preisig-Müller, R., Grzeschik, K.H., Daut, J., Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies (2002) Am J Med Genet, 114, pp. 227-229
dc.descriptionElmslie, F.V., Rees, M., Williamson, M.P., Kerr, M., Kjeldsen, M.J., Pang, K.A., Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q (1997) Hum Mol Genet, 6, pp. 1329-1334
dc.descriptionSander, T., Hildmann, T., Kretz, R., Fürst, R., Sailer, U., Bauer, G., Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism (1997) Am J Med Genet, 74, pp. 416-421
dc.descriptionGuipponi, M., Thomas, P., Girard-Reydet, C., Feingold, J., Baldy-Moulinier, M., Malafosse, A., Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes (1997) Am J Med Genet, 74, pp. 150-153
dc.descriptionSteinlein, O.K., Neubauer, B.A., Sander, T., Song, L., Stoodt, J., Mount, D.B., Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy (2001) Epilepsy Res, 44, pp. 191-195
dc.descriptionTaske, N.L., Williamson, M.P., Makoff, A., Bate, L., Curtis, D., Kerr, M., Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14 (2002) Epilepsy Res, 49, pp. 157-172
dc.descriptionSander, T., Schulz, H., Vieira-Saeker, A.M., Bianchi, A., Sailer, U., Bauer, G., Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14 (1999) Am J Med Genet, 88, pp. 182-187
dc.descriptionDurner, M., Keddache, M.A., Tomasini, L., Shinnar, S., Resor, S.R., Cohen, J., Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type (2001) Ann Neurol, 49, pp. 328-335
dc.descriptionZara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13 (2000) Am J Hum Genet, 66, pp. 1552-1557
dc.descriptionSander, T., Windemuth, C., Schulz, H., Saar, K., Gennaro, E., Bianchi, A., No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1 (2002) Am J Med Genet, 14, pp. 673-678
dc.descriptionRees, M., Curtis, D., Parker, K., Sundqvist, A., Baralle, D., Bespalova, I.N., Linkage analysis of idiopathic generalised epilepsy in families of probands with juvenile myoclonic epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants (1994) Neuropediatrics, 25, pp. 20-25
dc.descriptionIzzi, C., Barbon, A., Kretz, R., Sander, T., Barlati, S., Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure (2002) Am J Med Genet, 114, pp. 354-359
dc.descriptionSander, T., Hildmann, T., Janz, D., Wienker, T.F., Bianchi, A., Bauer, G., Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma2 subunit gene cluster on chromosome 5 (1996) Epilepsy Res, 23, pp. 235-244
dc.descriptionCossette, P., Liu, L., Brisebois, K., Dong, H., Lortie, A., Vanasse, M., Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy (2002) Nat Genet, 31, pp. 184-189
dc.descriptionMarini, C., Harkin, L.A., Wallace, R.H., Mulley, J.C., Scheffer, I.E., Berkovic, S.F., Childhood absence epilepsy and febrile seizures: A family with a GABA(A) receptor mutation (2003) Brain, 126, pp. 230-240
dc.descriptionKapoor, A., Vijai, J., Ravishankar, H.M., Satishchandra, P., Radhakrishnan, K., Anand, A., Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India (2003) J Genet, 82, pp. 17-21
dc.descriptionWindemuth, C., Schulz, H., Saar, K., Gennaro, E., Bianchi, A., Zara, F., No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures (2002) Epilepsy Res, 51, pp. 23-29
dc.descriptionGreenberg, D.A., Delgado-Escueta, A.V., Widelitz, H., Sparkes, R.S., Treiman, L., Maldonado, H.M., Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6 (1988) Am J Med Genet, 31, pp. 185-192
dc.descriptionDurner, M., Sander, T., Greenberg, D.A., Johnson, K., Beck-Mannagetta, G., Janz, D., Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients (1991) Neurology, 41, pp. 1651-1655
dc.descriptionWeissbecker, K.A., Durner, M., Janz, D., Scaramelli, A., Sparkes, R.S., Spence, M.A., Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6 (1991) Am J Med Genet, 38, pp. 32-36
dc.descriptionObeid, T., el Rab, M.O., Daif, A.K., Panayiotopoulos, C.P., Halim, K., Bahakim, H., Is HLA-DRW13 (W6) associated with juvenile myoclonic epilepsy in Arab patients? (1994) Epilepsia, 35, pp. 319-321
dc.descriptionLiu, A.W., Delgado-Escueta, A.V., Serratosa, J.M., Alonso, M.E., Medina, M.T., Gee, M.N., Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: Linkage to convulsions and electroencephalography trait (1995) Am J Hum Genet, 57, pp. 368-381
dc.descriptionGreenberg, D.A., Durner, M., Shinnar, S., Resor, S., Rosenbaum, D., Klotz, I., Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescente-onset generalized epilepsy (1996) Neurology, 47, pp. 750-755
dc.descriptionSerratosa, J.M., Delgado-Escueta, A.V., Medina, M.T., Zhang, Q., Iranmanesh, R., Sparkes, R.S., Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy (1996) Ann Neurol, 39, pp. 187-195
dc.descriptionLiu, A.W., Delgado-Escueta, A.V., Gee, M.N., Serratosa, J.M., Zhang, Q.W., Alonso, M.E., Juvenile myoclonic epilepsy in chromosome 6p12-11: Locus heterogeneity and recombinations (1996) Am J Med Genet, 63, pp. 438-446
dc.descriptionSander, T., Bockenkamp, B., Hildmann, T., Blasczyk, R., Kretz, R., Wienker, T.F., Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 (1997) Neurology, 49, pp. 842-847
dc.descriptionLe Hellard, S., Neidhart, E., Thomas, P., Feingold, J., Malafosse, A., Tafti, M., Lack of association between juvenile myoclonic epilepsy and HLA-DR13 (1999) Epilepsia, 40, pp. 117-119
dc.descriptionGreenberg, D.A., Durner, M., Keddache, M., Shinnar, S., Resor, S.R., Moshe, S.L., Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy (2000) Am J Hum Genet, 66, pp. 508-516
dc.descriptionBai, D., Alonso, M.E., Medina, M.T., Bailey, J.N., Morita, R., Cordova, S., Juveline myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families (2002) Am J Med Genet, 113, pp. 268-274
dc.descriptionPal, 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 (2003) Am J Hum Genet, 73, pp. 261-270
dc.descriptionIzzi, C., Barbon, A., Kretz, R., Sander, T., Barlati, S., Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure (2002) Am J Med Genet, 114, pp. 354-359
dc.descriptionSuzuki, T., Delgado-Escueta, A.V., Alonso, M.A., Morita, R., Medina, M.T., Ganesh, S., Juvenile myoclonic epilepsy: Mutations and variants in a gene that encodes a protein with EF-hand (2003) Annual Meeting of the American Academy of Neurology
dc.description21 Mar-Apr 2003
dc.descriptionHonolulu. Neurology, p. 60
dc.languageen
dc.publisher
dc.relationJornal de Pediatria
dc.rightsaberto
dc.sourceScopus
dc.titleThe Genetics Of Epilepsies
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución