Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Tarih
2012
Yazar
BECKER, Felicitas
Gardiner, Mark R.
MARINI, Carla
GUERRINI, Renzo
Lehesjoki, Anna-Elina
Siren, Auli
NABBOUT, Rima
BAULAC, Stephanie
LEGUERN, Eric
SERRATOSA, Jose M.
ROSENOW, Felix
FEUCHT, Martha
UNTERBERGER, Iris
COVANIS, Athanasios
SULS, Arvid
WECKHUYSEN, Sarah
KANEVA, Radka
Caglayan, Hande
Turkdogan, Dilsad
HEMPELMANN, Anne
SCHULZ, Herbert
RUESCHENDORF, Franz
TRUCKS, Holger
NUERNBERG, Peter
AVANZINI, Giuliano
Koeleman, Bobby P. C.
SANDER, Thomas
Ozbek, Ugur
Baykan, BETÜL
Bebek, Nerses
LEU, Costin
de Kovel, Carolien G. F.
ZARA, Federico
STRIANO, Pasquale
PEZZELLA, Marianna
ROBBIANO, Angela
BIANCHI, Amedeo
BISULLI, Francesca
COPPOLA, Antonietta
GIALLONARDO, Anna Teresa
BECCARIA, Francesca
Trenite, Dorothee Kasteleijn-Nolst
LINDHOUT, Dick
GAUS, Verena
SCHMITZ, Bettina
JANZ, Dieter
WEBER, Yvonne G.
LERCHE, Holger
KLEEFUSS-LIE, Ailing A.
HALLMAN, Kerstin
KUNZ, Wolfram S.
ELGER, Christian E.
MUHLE, Hiltrud
STEPHANI, Ulrich
MOLLER, Rikke S.
HJALGRIM, Helle
Mullen, Saul
Scheffer, Ingrid E.
Berkovic, Samuel F.
EVERETT, Kate V.
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Özet
Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.
Bağlantı
http://hdl.handle.net/20.500.12627/53726
https://doi.org/10.1111/j.1528-1167.2011.03379.x
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