6 LITERATURVERZEICHNIS
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1 Literaturverzeichnis 60 6 LITERATURVERZEICHNIS Abou-Khalil B, Ge Q, Desai R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001;57: Alstrom CH. A study of epilepsy in its clinical, social and genetic aspects. Acta Neurol Scand Suppl 1950;63: Andermann E und Matrakos JD. Proceedings: A multifactorial analysis of focal and generalized cortico-reticular (centrencephalic) epilepsy. Epilepsia 1972;13: Anderson VE, Hauser WA, Rich SS. Genetic heterogeneity in the epilepsies. Adv Neurol 1986;44: Annegers JF, Hauser WA, Elveback LR, et al. Seizure disorders in offspring of parents with a history of seizures - a maternal-paternal difference? Epilepsia 1976;17:1-9. Annegers JF, Hauser WA, Elveback LR, et al. Congenital malformations and seizure disorders in the offspring of parents with epilepsy. Int J Epidemiol 1978;7: Annegers JF, Hauser WA, Elveback LR, et al. The risk of epilepsy following febrile convulsions. Neurology 1979;29: Annegers JF, Hauser WA, Anderson VE, et al. The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 1982;32: Annegers JF, Hauser WA, Shirts SB, et al. Factors prognostic of unprovoked seizures after febrile convulsions. N Engl J Med 1987;316: Annegers JF, Rocca WA, Hauser WA. Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin Proc 1996;71: Audenaert D, Claes L, Ceulemans B, et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003;61: Baulac S, Gourfinkel-An I, Picard F, et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999;65:
2 Literaturverzeichnis 61 Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28: Baulac S, Gourfinkel-An I, Nabbout R, et al. Fever, genes, and epilepsy. Lancet Neurol 2004;3: Beck-Mannagetta G. Über Fieberkrämpfe bei Kindern von Eltern mit Epilepsie. Dissertation, Freie Universität Berlin, Beck-Mannagetta G, Janz D, Hoffmeister U, et al. Morbidity risk for seizures and epilepsy in offspring of patients with epilepsy. In: Beck-Mannagetta G, Anderson VE, Doose H, Janz D, eds. Genetics of the epilepsies. Berlin, Deutschland: Springer Verlag, 1989: Berg AT und Shinnar S. The contributions of epidemiology to the understanding of childhood seizures and epilepsy. J Child Neurol 1994;9: Berg AT und Shinnar S. Unprovoked seizures in children with febrile seizures: short-term outcome. Neurology 1996;47: Berkovic SF, Howell RA, Hay DA, et al. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998;43: Berkovic SF und Scheffer IE. Febrile seizures: genetics and relationship to other epilepsy syndromes. Curr Opin Neurol 1998;11: Bianchi A, Viaggi S, Chiossi E. Family study of epilepsy in first degree relatives: data from the Italian Episcreen Study. Seizure 2003;12: Callenbach PM, Geerts AT, Arts WF, et al. Familial occurrence of epilepsy in children with newly diagnosed multiple seizures: Dutch Study of Epilepsy in Childhood. Epilepsia 1998;39: Camfield P, Camfield C, Gordon K, et al. What types of epilepsy are preceded by febrile seizures? A population-based study of children. Dev Med Child Neurol 1994;36: Cendes F, Andermann F, Dubeau F, et al. Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy: an MRI volumetric study. Neurology 1993;43:
3 Literaturverzeichnis 62 Conrad K. Erbanlage und Epilepsie. IV. Ergebnisse der Nachkommenschaftsuntersuchungen an Epileptikern. Z Neurol Psychiatr 1937;155: Corey LA, Berg K, Pellock JM, et al. The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 1991;41: Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31: Cossette P, Loukas A, Lafreniere RG, et al. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res 2003;53: Doose H, Ritter K, Volzke E. EEG longitudinal studies in febrile convulsions. Genetic Aspects. Neuropediatrics 1983;14: Doose H und Maurer A. Seizure risk in offspring of individuals with a history of febrile convulsions. Eur J Pediatr 1997;156: Doose H und Neubauer BA. Preponderance of female sex in the transmission of seizure liability in idiopathic generalized epilepsy. Epilepsy Res 2001;43: Durner M, Sander T, Greenberg DA, et al. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991;41: Durner M, Zhou G, Fu D, et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. Am J Hum Genet 1999;64: Durner M, Keddache MA, Tomasini L, et al. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 2001;49: Eccheverria MG. Marriage and hereditariness of epileptics. J Med Sci 1880;26: Eisner V, Pauli LL, Livingston S. Hereditary aspects of epilepsy. Bull Johns Hopkins Hosp 1959;105:
4 Literaturverzeichnis 63 Elmslie FV, Rees M, Williamson MP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;6: Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24: Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68: Falconer MA. Mesial temporal (Ammon's horn) sclerosis as a common cause of epilepsy. Aetiology, treatment, and prevention. Lancet 1974;2: Fong GC, Shah PU, Gee MN, et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet 1998;63: Forsgren L, Sidenvall R, Blomquist HK, et al. An incident case-referent study of febrile convulsions in children: genetical and social aspects. Neuropediatrics 1990; 21: Frantzen E, Lennox-Buchthal M, Nygaard A, et al. A genetic study of febrile convulsions. Neurology 1970;20: French JA, Williamson PD, Thadani VM, et al. Characteristics of medial temporal lobe epilepsy: Results of history and physical examination. Ann Neurol 1993;34: Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonicclonic seizures. Brain 2003;126: Fukuyama Y, Kagawa K, Tanaka K. A genetic study of febrile convulsions. Eur Neurol 1979;18: Gourfinkel-An I, Baulac S, Nabbout R, et al. Monogenic idiopathic epilepsies. Lancet Neurol 2004;3: Guerrini R, Parmeggiani L, Kaminska A, et al. Myoclonic astatic epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London, England: JohnLibbey, 2002:
5 Literaturverzeichnis 64 Hamati-Haddad A und Abou-Khalil B. Epilepsy diagnosis and localization in patients with antecedent childhood febrile convulsions. Neurology 1998;50: Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70: Harvald B. On the genetic prognosis of epilepsy. Acta Psychiatr Neurol Scand 1951;26: Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33: Hauser WA und Kurland LT. The epidemiology of epilepsy in Rochester, Minnesota, 1935 through Epilepsia 1975;16:1-66. Hauser WA. The natural history of febrile seizures. In: Nelson KB und Ellenberg JH, eds. Febrile Seizures. New York, USA: Raven Press, 1981:5-17. Hauser WA, Annegers JF, Anderson VE, et al. The risk of seizure disorders among relatives of children with febrile convulsions. Neurology 1985;35: Hauser WA, Annegers JF, Kurland LT. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: Epilepsia 1993;34: Inouye E. Observations on forty twin index cases with chronic epilepsy and their co-twins. J Nerv Ment Dis 1960;130: Italian League Against Epilepsy Genetic Collaborative Group. Concordance of clinical forms of epilepsy in families with several affected members. Epilepsia 1993;34: Ito M, Nagafuji H, Okazawa H, et al. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res 2002;48: Janz D und Scheffner D. Epileptic seizures in the children of epileptic parents. Nervenarzt 1980;51:
6 Literaturverzeichnis 65 Janz D und Durner M. Juvenile myoclonic epilepsy. In: Engel J, Pedley TA, eds. Epilepsy: A comprehensive textbook. Philadelphia, USA: Lippincott-Raven, 1997: Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998;7: Kaminska A, Ickowicz A, Plouin P, et al. Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. Epilepsy Res 1999;36: Kananura C, Haug K, Sander T, et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 2002;59: Kjeldsen MJ, Kyvik KO, Christensen K, et al. Genetic and environmental factors in epilepsy: a population-based study of Danish twin pairs. Epilepsy Res 2001;44: Kjeldsen MJ, Kyvik KO, Friis ML, et al. Genetic and environmental factors in febrile seizures: a Danish population-based twin study. Epilepsy Res 2002;51: Kjeldsen MJ, Corey LA, Christensen K, et al. Epileptic seizures and syndromes in twins: the importance of genetic factors. Epilepsy Res 2003;55: Kjeldsen MJ, Corey LA, Solaas MH, et al. Genetic factors in seizures: a population-based study of 47,626 US, Norwegian and Danish twin pairs. Twin Res Hum Genet 2005;8: Knudsen FU. Febrile seizures: treatment and prognosis. Epilepsia 2000;41:2-9. Kugler SL und Johnson WG. Genetics of the febrile seizure susceptibility trait. Brain Dev 1998;20: Kugler SL, Stenroos ES, Mandelbaum DE, et al. Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Med Genet 1998;79: Lennox-Buchthal M. Febrile and nocturnal convulsions in monozygotic twins. Epilepsia 1971;12: Lennox WG. The genetics of epilepsy. Am J Psychiat 1947;103:
7 Literaturverzeichnis 66 Lennox WG. The heredity of epilepsy as told by relatives and twins. J Am Med Assoc 1951;146: Lennox WG. Epilepsy and related disorders. 3rd ed. Boston, USA: Little, Brown and Co., Lerman P. Benign childhood epilepsy with centrotemporal spikes (BECTS). In: Engel J, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia, USA: Lippincott-Raven, 1997: Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57: Loiseau P, Panayiotopoulos CP. Childhood absence epilepsy and related syndromes. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London, England: JohnLibbey, 2002: Maher J und McLachlan RS. Febrile convulsions. Is seizure duration the most important predictor of temporal lobe epilepsy? Brain 1995;118: Marini C, Harkin LA, Wallace RH, et al. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. Brain 2003;126: Marini C, Scheffer IE, Crossland KM, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 2004;45: Mayanagi Y, Watanabe E, Kaneko Y. Mesial temporal lobe epilepsy: clinical features and seizure mechanism. Epilepsia 1996;37: Miller LL, Pellock JM, DeLorenzo RJ, et al. Univariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin Registry. Genet Epidemiol 1998;15: Miller LL, Pellock JM, Boggs JG, et al. Epilepsy and seizure occurrence in a populationbased sample of Virginian twins and their families. Epilepsy Res 1999;34:
8 Literaturverzeichnis 67 Moulard B, Guipponi M, Chaigne D, et al. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet 1999;65: Nabbout R, Prud'homme JF, Herman A, et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002;125: Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000;9: Nelson KB und Ellenberg JH. Predictors of epilepsy in children who have experienced febrile seizures. N Engl J Med 1976;295: Nelson KB und Ellenberg JH. Prognosis in children with febrile seizures. Pediatrics 1978;61: NIH Consensus Development Conference summary. Febrile seizures Long-term management of children with fever associated seizures. J Tenn Med Assoc 1981;74: Offringa M, Hazebroek-Kampschreur AA, Derksen-Lubsen G. Prevalence of febrile seizures in Dutch schoolchildren. Paediatr Perinat Epidemiol 1991;5: Ottman R, Hauser WA, Susser M. Genetic and maternal influences on susceptibility to seizures. An analytic review. Am J Epidemiol 1985;122: Ottman R, Annegers JF, Hauser WA, et al. Higher risk of seizures in offspring of mothers than of fathers with epilepsy. Am J Hum Genet 1988;43: Ottman R, Annegers JF, Hauser WA, et al. Seizure risk in offspring of parents with generalized versus partial epilepsy. Epilepsia 1989;30: Ottman R, Lee JH, Risch N, et al. Clinical indicators of genetic susceptibility to epilepsy. Epilepsia 1996;37: Ottman R. Progress in the genetics of the partial epilepsies. Epilepsia 2001;42: Panayiotopoulos CP. Idiopathic childhood epilepsies. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London, England: JohnLibbey, 2002:
9 Literaturverzeichnis 68 Peiffer A, Thompson J, Charlier C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q Ann Neurol 1999;46: Pinto D, de Haan GJ, Janssen GA, et al. Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families. Epilepsia 2004;45: Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1981;22: Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30: Racacho LJ, McLachlan RS, Ebers GC, et al. Evidence favoring genetic heterogeneity for febrile convulsions. Epilepsia 2000;41: Rich SS, Annegers JF, Hauser WA, et al. Complex segregation analysis of febrile convulsions. Am J Hum Genet 1987;41: Rocca WA, Sharbrough FW, Hauser WA, et al. Risk factors for absence seizures: a population-based case-control study in Rochester, Minnesota. Neurology 1987;37: Ross EM, Peckham CS, West PB, et al. Epilepsy in childhood: findings from the National Child Development Study. Br Med J 1980;280: Sander T, Bockenkamp B, Hildmann T, et al. Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6. Neurology 1997;49: Sander T, Schulz H, Saar K, et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 2000;9: Scheffer IE und Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120: Schiottz-Christensen E. Genetic factors in febrile convulsions. An investigation of 64 samesexed twin pairs. Acta Neurol Scand 1972;48:
10 Literaturverzeichnis 69 Schuman SH und Miller LJ. Febrile convulsions in families: findings in an epidemiologic survey. Clin Pediatr 1966;5: Schupf N und Ottman R. Risk of epilepsy in offspring of affected women: association with maternal spontaneous abortion. Neurology 2001;57: Serratosa JM, Delgado-Escueta AV, Medina MT, et al. Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy. Ann Neurol 1996;39: Sillanpaa M, Koskenvuo M, Romanov K, et al. Genetic factors in epileptic seizures: evidence from a large twin population. Acta Neurol Scand 1991;84: Sing CF, Shreffler DC, Neel JV, et al. Studies on genetic selection in a completely ascertained caucasian population. II. Family analyses of 11 blood group systems. Am J Hum Genet 1971;23: Singh R, Scheffer IE, Crossland K, et al. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999; 45: Stanhope JM, Brody JA, Brink E, et al. Convulsions among the Chamorro people of Guam, Mariana islands. II. Febrile convulsions. Am J Epidemiol 1972;95: Sugawara T, Mazaki-Miyazaki E, Ito M, et al. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001;57: Thomas P, Genton P, Gelisse P, et al. Juvenile myoclonic epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London, England: JohnLibbey, 2002: Tsuboi T. Genetic aspects of febrile convulsions. Hum Genet 1977;38: Tsuboi T. Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 1984;34: Tsuboi T. Seizures of childhood. A population-based and clinic-based study. Acta Neurol Scand Suppl 1986;110: Tsuboi T. Prevalence and incidence of epilepsy in Tokyo. Epilepsia 1988;29:
11 Literaturverzeichnis 70 Tsuboi T und Christian W. On the genetics of the primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type. A clinical and electroencephalographic study of 399 probands. Humangenetik 1973;19: Tsuboi T und Endo S. Febrile convulsions followed by nonfebrile convulsions. A clinical, electroencephalographic and follow-up study. Neuropadiatrie 1977a;8: Tsuboi T und Endo S. Incidence of seizures and EEG abnormalities among offspring of epileptic patients. Hum Genet 1977b;36: Tsuboi T und Endo S. Genetic studies of febrile convulsions: analysis of twin and family data. Epilepsy Res Suppl 1991;4: Tsuboi T, Endo S, Iida N. Long-term follow-up of a febrile convulsion cohort. Acta Neurol Scand 1991;84: Tsuboi T und Okada S. Exogenous causes of seizures in children: a population study. Acta Neurol Scand 1985;71: Van der Berg BJ und Yerushalmy J. Studies on convulsive disorders in young children. I. Incidence of febrile and nonfebrile convulsions by age and other factors. Pediatr Res 1969;3: Verity CM, Butler NR, Golding J. Febrile convulsions in a national cohort followed up from birth. Medical history and intellectual ability at 5 years of age. Br Med J 1985;290: Verity CM und Golding J. Risk of epilepsy after febrile convulsions: a national cohort study. BMJ 1991;303: Wallace RH, Berkovic SF, Howell RA, et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q J Med Genet 1996;33: Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19: Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001a;28:49-52.
12 Literaturverzeichnis 71 Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001b;68: Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58: Wallace SJ. Spontaneous fits after convulsions with fever. Arch Dis Child 1977;52: Winawer MR, Rabinowitz D, Pedley TA, et al. Genetic influences on myoclonic and absence seizures. Neurology 2003;61: Zara F, Bianchi A, Avanzini G, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1995;4: Zara F, Labuda M, Garofalo PG, et al. Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy. Neurology 1998;51:
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