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Your search keyword '"Friis, Mogens"' showing total 11 results
Start Over Author "Friis, Mogens" Journal epilepsy research
11 results on '"Friis, Mogens"'

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

Author

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

Published
2009
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3. Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

Author

Everett, Kate, Chioza, Barry, Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dooley, Joseph, Dulac, Olivier, Durner, Martina, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens, Guerrini, Renzo, Heils, Armin, Kjeldsen, Marianne, Nabbout, Rima, Sander, Thomas, Wirrell, Elaine, McKeigue, Paul, Robinson, Robert, Taske, Nichole, and Gardiner, Mark

Published
2007
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6. Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus ( EJM2) on chromosome 15q13–14

Author

Taske, Nichole L., Williamson, Magali P., Makoff, Andrew, Bate, Louise, Curtis, David, Kerr, Michael, Kjeldsen, Marianne J., Pang, Kiang An, Sundqvist, Anders, Friis, Mogens L., Chadwick, David, Richens, Alan, Covanis, Athanasios, Santos, Manuela, Arzimanoglou, Alexis, Panayiotopoulos, Chrysostomos P., Whitehouse, William P., Rees, Michele, and Gardiner, R.Mark

Published
2002
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7. Linkage analysis between childhood absence epilepsy and genes encoding GABA A and GABA B receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q

Author

Robinson, Robert, Taske, Nichole, Sander, Thomas, Heils, Armin, Whitehouse, William, Goutières, Françoise, Aicardi, Jean, Lehesjoki, Anna-Elina, Siren, Auli, Laue Friis, Mogens, Kjeldsen, Marianne Juel, Panayiotopoulos, Chrysostomos, Kennedy, Colin, Ferrie, Colin, Rees, Michele, and Gardiner, R.Mark

Published
2002
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9. Evaluation of CACNA1H in European patients with childhood absence epilepsy

Author

Chioza, Barry, Everett, Kate, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dulac, Olivier, Durner, Martina, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens, Heils, Armin, Kjeldsen, Marianne, Larsson, Katrin, Lehesjoki, Anna-Elina, Nabbout, Rima, Olsson, Ingrid, Sander, Thomas, Sirén, Auli, Robinson, Robert, Rees, Michele, and Gardiner, R. Mark

Published
2006
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10. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q

Author

Robinson, Robert, primary, Taske, Nichole, additional, Sander, Thomas, additional, Heils, Armin, additional, Whitehouse, William, additional, Goutières, Françoise, additional, Aicardi, Jean, additional, Lehesjoki, Anna-Elina, additional, Siren, Auli, additional, Laue Friis, Mogens, additional, Kjeldsen, Marianne Juel, additional, Panayiotopoulos, Chrysostomos, additional, Kennedy, Colin, additional, Ferrie, Colin, additional, Rees, Michele, additional, and Gardiner, R.Mark, additional

Published
2002
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11. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q

Author

Robinson, Robert, Taske, Nichole, Sander, Thomas, Heils, Armin, Whitehouse, William, Goutières, Françoise, Aicardi, Jean, Lehesjoki, Anna-Elina, Siren, Auli, Laue Friis, Mogens, Kjeldsen, Marianne Juel, Panayiotopoulos, Chrysostomos, Kennedy, Colin, Ferrie, Colin, Rees, Michele, and Gardiner, R. Mark

Subjects
*PETIT mal epilepsy, *GABA receptors
Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of typical absence seizures in otherwise normal children of school age. A genetic component to aetiology is well established but the mechanism of inheritance and the genes involved are unknown. Available evidence suggests that mutations in genes encoding GABA receptors or brain expressed voltage-dependent calcium channels (VDCCs) may underlie CAE. The aim of this work was to test this hypothesis by linkage analysis using microsatellite loci spanning theses genes in 33 nuclear families each with two or more individuals with CAE. Seventeen VDCC subunit genes, ten GABAAR subunit genes, two GABAB receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci. Assuming locus homogeneity, all loci gave statistically significant negative LOD scores, excluding these genes as major loci in the majority of these families. Positive HLOD scores assuming locus heterogeneity were observed for CACNG3 on chromosome 16p12-p13.1 and the GABRA5, GABRB3, GABRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients with CAE. [Copyright &y& Elsevier]

Published
2002
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