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

Leu, Costin; de Kovel, Carolien; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna; Beccaria, Francesca; Trenite, Dorothee; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing; Hallman, Kerstin; Kunz, Wolfram; Elger, Christian; Muhle, Hiltrud; Stephani, Ulrich; Moller, Rikke; Hjalgrim, Helle; Mullen, Saul; Scheffer, Ingrid; Berkovic, Samuel; Everett, Kate; Gardiner, Mark; Marini, Carla; Guerrini, Renzo; Lehesjoki, Anna-Elina; Siren, Auli; Nabbout, Rima; Baulac, Stephanie; Leguern, Eric; Serratosa, Jose; Rosenow, Felix; Feucht, Martha; Unterberger, Iris; Covanis, Athanasios; Suls, Arvid; Weckhuysen, Sarah; Kaneva, Radka; Caglayan, Hande; TÜRKDOĞAN, DİLŞAD; Baykan, Betul; Bebek, Nerses; Ozbek, Ugur; Hempelmann, Anne; Schulz, Herbert; Rueschendorf, Franz; Trucks, Holger; Nuernberg, Peter; Avanzini, Giuliano; Koeleman, Bobby; Sander, Thomas

doi:10.1111/j.1528-1167.2011.03379.x

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

Leu C., de Kovel C. G. F., Zara F., Striano P., Pezzella M., Robbiano A., ...Daha Fazla

EPILEPSIA, cilt.53, sa.2, ss.308-318, 2012 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 53 Sayı: 2
Basım Tarihi: 2012
Doi Numarası: 10.1111/j.1528-1167.2011.03379.x
Dergi Adı: EPILEPSIA
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.308-318
Anahtar Kelimeler: Genetic generalized epilepsy, Complex inheritance, Absence seizure, Myoclonic seizure, Linkage analysis, JUVENILE MYOCLONIC EPILEPSY, CHILDHOOD ABSENCE EPILEPSY, COMPLEX TRAITS, I ERROR, SEIZURES, HETEROGENEITY, ASSOCIATION, FAMILIES, CHROMOSOME-6, ARCHITECTURE
Marmara Üniversitesi Adresli: Evet

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.