Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Autor: Orvar Eeg-Olofsson, Renzo Guerrini, M. L. Friis, Auli Siren, Harald N. Aschauer, Thomas Sander, Paul M. McKeigue, Joseph M. Dooley, Rima Nabbout, Barry A. Chioza, Oebele F. Brouwer, Petra M.C. Callenbach, R. Mark Gardiner, Kate V. Everett, Olivier Dulac, Lina Nashef, Martina Durner, Martha Feucht, Marianne J. Kjeldsen, Robert Robinson, Jean Aicardi, Elaine C. Wirrell, Athanasios Covanis

Publikováno v: Epilepsy Research
Chioza, B A, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dooley, J M, Dulac, O, Durner, M, Eeg-Olofsson, O, Feucht, M, Friis, M L, Guerrini, R, Kjeldsen, M J, Nabbout, R, Nashef, L, Sander, T, Sirén, A, Wirrell, E, McKeigue, P, Robinson, R, Gardiner, R M & Everett, K V 2009, ' Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14 ', Epilepsy Research, vol. 87, no. 2-3, pp. 247-55 . https://doi.org/10.1016/j.eplepsyres.2009.09.010
Chioza, B A, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dooley, J M, Dulac, O, Durner, M, Eeg-Olofsson, O, Feucht, M, Friis, M L, Guerrini, R, Kjeldsen, M J, Nabbout, R, Nashef, L, Sander, T, Siren, A, Wirrell, E, McKeigue, P, Robinson, R, Gardiner, R M & Everett, K V 2009, ' Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14 ', Epilepsy research, vol. 87, no. 2-3, pp. 247-255 . https://doi.org/10.1016/j.eplepsyres.2009.09.010
EPILEPSY RESEARCH, 87(2-3), 247-255. ELSEVIER SCIENCE BV

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7fd2bb51cb36ecf7cbe8b63b947af5

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Autor: Anna-Elina Lehesjoki, Olivier Dulac, Orvar Eeg-Olofsson, Andrew Makoff, Athanasios Covanis, Armin Heils, Françoise Goutières, Petra M.C. Callenbach, Jean Aicardi, Oebele F. Brouwer, Kate V. Everett, Marianne J. Kjeldsen, Rima Nabbout, Robert Robinson, Mark Gardiner, M Rees, Auli Siren, Paul M. McKeigue, Martha Feucht, Barry A. Chioza, Renzo Guerrini, M. L. Friis, Harald N. Aschauer, Thomas Sander, Nichole Taske, Ingrid Olsson

Publikováno v: Everett, K V, Chioza, B, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dulac, O, Eeg-Olofsson, O, Feucht, M, Friis, M, Goutieres, F, Guerrini, R, Heils, A, Kjeldsen, M, Lehesjoki, A-E, Makoff, A, Nabbout, R, Olsson, I, Sander, T, Sirén, A, McKeigue, P, Robinson, R, Taske, N, Rees, M & Gardiner, M 2007, ' Linkage and association analysis of CACNG3 in childhood absence epilepsy ', European Journal of Human Genetics, vol. 15, no. 4, pp. 463-72 . https://doi.org/10.1038/sj.ejhg.5201783
European Journal of Human Genetics, 15(4), 463-472. Nature Publishing Group

Udgivelsesdato: April Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiolog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032771c89ce9145d79408f0bbc62dc6d
https://doi.org/10.1038/sj.ejhg.5201783

Recommendations on the clinical use of oxcarbazepine in the treatment of epilepsy: a consensus view

Autor: Mogens Dam, D. Schmidt, O. Dulac, M. L. Friis, R. Sachdeo, J. Van Parys, Michel Baulac, Günter Krämer, S. Arroyo, B. Pedersen, Reetta Kälviäinen

Publikováno v: Acta Neurologica Scandinavica. 104:167-170

Extensive clinical use and a series of clinical trials have shown that oxcarbazepine is a valuable antiepileptic drug for the treatment of adults and children with partial onset seizures both in initial monotherapy, for conversion to monotherapy and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56013aad2af5678351147920f6761bad
https://doi.org/10.1034/j.1600-0404.2001.00870.x

Genetic and environmental factors in epilepsy: a population-based study of 11 900 Danish twin pairs

Autor: M. L. Friis, Marianne J. Kjeldsen, Kaare Christensen, Kirsten Ohm Kyvik

Publikováno v: Kjeldsen, M J, Kyvik, K O, Christensen, K & Friis, M L 2001, ' Genetic and environmental factors in epilepsy : A population-based study of 11,900 Danish twin pairs ', Epilepsy Research, vol. 44, no. 2-3, pp. 167-178 . https://doi.org/10.1016/S0920-1211(01)00196-6

The contribution of genetic and environmental factors to the occurrence of epilepsy was examined in an unselected sample of twins recruited from the population-based Danish Twin Registry. Information on the occurrence of epilepsy in both members of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5cd93b4966672b70d1dbef1a5610408
https://doi.org/10.1016/s0920-1211(01)00196-6

Psychiatric sequelae of minor head injury. A prospective follow-up study

Autor: M. Birket-Smith, H. S. Andersen, M. L. Friis, T. Middelboe

Publikováno v: European Psychiatry. 7:183-189

SummaryPsychiatric morbidity was measured in a prospective follow-up study of 51 patients admitted to hospital after minor head injury. By means of self report questionnaires (eg General Health Questionnaire (SHQ) and Impact of Event Scale), semistru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9971fbd1023ecbc81fc794d655d6247a
https://doi.org/10.1017/s0924933800005290