Childhood Absence Epilepsy Family Study

Literature

Durner M, Keddache MA, Mandelbaum D, Kang H. Weinstein S, Testa F, Golderg R, Shinnar S, Novak J, Milford L, Traeger E, Zupanc M, Moshe N, Greenberg DA, Kugler S (submitted). Genome scan in childhood absence epilepsy: Evidence for genes that raise general seizure susceptibility and genes that determine the absence seizure type.

Kugler SL, Cauley RP, Shah N, Mandelbaum DE, Pal DK, Durner M (submitted). Polyspike and wave does not predict GTCS in Childhood Absence Epilepsy.

Everett KV, Chioza BA, Aicardi JFM, Aschauer HN, Brouwer OF, Callenbach PMC, Dooley JM, Dulac O, Durner M, Eeg-Olofsson 0, Feucht M, Friis ML, Goutieres F, Guerrini R, Heils A, Kjeldsen MJ, Nabbout R, Sander T, Wirrell E, McKeigue P, Robinson R, Taske N, Rees M, Gardiner RM (submitted). Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res 75:145-53

Durner M, Gorroochurn P, Marini C, Guerrini R. (2006). Can we increase the likelihood of success for the future association studies in epilepsy? Epilepsia. 47:1617-21

Gorroochurn P, Hodge SE, Heiman GA, Durner M, Greenberg DA (2007). Non-replication of association studies: "pseudo-failures" to replicate? Genet Med 9:325-31.

Chioza BA, Everett KV, Aschauer HN, Brouwer OF, Callenbach PMC, Covanis A. Dulac O, Durner M, Eeg-Olofsson O. Feucht M, Friis ML, Heils A, Kjeldsen MJ, Lehesjoki AE, Nashef L, Olsson IB, Sander T, Siren A, Robinson R, Rees M, Gardiner RM (2006). Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res 69:177-81,

Pal DK, Durner M, Klotz I, Dicker E, Shinnar S, Resor S, Cohen J, Harden C, Moshe S, Kang H, Bromfield E, Greenberg DA (2006). Complex inheritance and possible imprinting in Juvenile Myoclonic Epilepsy. Brain & Behavior 28: 92-98.

Durner M, Pal D, Greenberg D (2005) Genetics of juvenile myoclonic epilepsy: faulty components and faulty wiring? Adv Neurol 95:245-254

Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H (2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76:139-146

Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA (2004). BRD2 is the first major gene for Juvenile Myoclonic Epilepsy. Am J Hum Genet 73:261-270

Pal DK, Kugler SL, Mandelbaum DE, Durner M (2003) Phenotypic features of familial febrile seizures: a case-control study. Neurology 60:410-414

Durner M, Keddache M, Tomasini L, Shinnar S, Resor S, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Klotz I, Dicker E, Greenberg DA (2001) Genome Scan of Idiopathic Generalized Epilepsy: Evidence for a common gene and modifying genes influencing the seizure type. Ann Neurol 49:328-335.

Durner M (2000) Juvenile Myoclonic Epilepsy. In: Handbook of Clinical Neurology. Vinken PJ and Bruyn GW (eds). Elsevier Science

Greenberg DA, Durner M, Keddache M, Shinnar S, Resor S, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Tomasini L, Zhou G, Klotz R, Dicker E (2000) Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association and maternal inheritance in Juvenile Myoclonic Epilepsy. Am J Hum Genet 66:508-516.

Durner M, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Hertz S, Wallace S, Luciano D, Ballaban-Gil K, Greenberg DA (2000) No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Am J Med Genet (Neuropsych Genet) 96:49-52.

Hallmann K, Durner M, Sander T, Steinlein OK (2000) Mutation Analysis of the Inwardly Rectifying K+ Channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in Juvenile Myoclonic Epilepsy. Am J Med Genet (Neuropsych Genet) 96:8-11.

Durner M, Zhou G, Fu D, Abreu P, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Klotz I, Dicker E, Greenberg DA (1999) Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 and genetic heterogeneity. Am J Hum Genet 64:1411-9.

Janz D, Durner M (1997) Juvenile Myoclonic Epilepsy. In: Epilepsy - a comprehensive textbook. Engels J and Pedley T (eds). New York: Raven Press.

Greenberg DA, Durner M, Shinnar S, Resor S, Rosenbaum D, Klotz R, Dicker E, Keddache M, Zhou G, Yang X, Altstiel L (1996) Association of HLA Class II alleles in patients with other forms of adolescent onset generalized epilepsy. Neurology 47:750-755.

Sander T, Hildmann T, Wienker TF, Ramel C, Beck-Mannagetta G, Bianchi A, Sailer U, Berek K, Bauer G, Neitzel H, Schmitz B, Durner M, Johnson KJ, Janz D (1996) Common subtypes of idiopathic generalized epilepsy: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20. Am J Med Gen (Neuropsych Gen) 67:31-39.

Greenberg DA, Durner M, Resor S, Rosenbaum D, Shinnar S (1995) The genetics of idiopathic generalized epilepsies of adolescent onset: Differences between juvenile myoclonic epilepsy with random grand mal and with awakening grand mal. Neurology 45:942-946

Durner M (1994) Genetics of Juvenile Myoclonic Epilepsy. In: Seizures and Syndromes. Wolf P (ed). Baltimore, John Libbey.

Durner M, Greenberg DA, Delgado-Escueta AV (1992) Is there a genetic relationship between epilepsy and birth defects? Neurology 42(Suppl 5): 63-67.

Durner M, Janz D, Zingsem J, Greenberg DA (1992) Possible Association of Juvenile Myoclonic Epilepsy with HLA-Drw6. Epilepsia 33:814-816.

Greenberg DA, Durner M, Delgado-Escueta AV (1992) The evidence for several genetic loci in the expression of generalized epilepsy. Neurology 42(Suppl 5): 56-62

Durner M, Sander T, Greenberg DA, Beck-Mannagetta G, Johnson K, Janz D (1991) Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families ascertained through Juvenile Myoclonic Epilepsy Patients. Neurology 41:1651-1655.

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