Conference Proceedings

Intronic expansions of an ATTTC pentamer in the STARD7 gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2)

J Gecz, Z Afawi, M Bahlo, MF Bennett, SF Berkovic, F Bisulli, F Brancati, L Canafoglia, G Casari, R van Coller, MA Corbett, D Crompton, C Depienne, R Guerrini, E Hirsch, M Klein, L Licchetta, A van den Maagdenberg, D Mei, T Pippucci Show all

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2019