Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

Sandrine Cestèle (1) , Sara Partemi (2) , Sandrine Cestele (3) , Marianna Pezzella (4) , Oscar Campuzano (5) , Roberta Paravidino (6) , Vincenzo Pascali , Federico Zara (4) , Carlo Alberto Tassinari (7) , Salvatore Striano (8) , Antonio Oliva (9) , Ramon Brugada (4) , Massimo Mantegazza (10) , Pasquale Striano (11)

1 IPMC - Institut de pharmacologie moléculaire et cellulaire
2 Institute of Legal Medicine
3 IP - Ingénierie des protéines
4 Pediatric Neurology and Neuromuscular Diseases Unit
5 Cardiovascular Genetics Center
6 Pediatric Neurology and Neuromuscular Diseases Unit
7 Department of Neurological Sciences
8 Epilepsy Center
9 departament de Quimica
10 Department of Neurophysiopathology
11 UniGe - Università degli studi di Genova = University of Genoa

Domaines: Sciences du Vivant [q-bio]

Sandrine Cestèle, Sara Partemi, Sandrine Cestele, Marianna Pezzella, Oscar Campuzano, et al.. Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Epilepsia, 2013, 54 (8), pp.e112-e116. ⟨10.1111/epi.12259⟩. ⟨hal-02352070⟩