Article
Annals of Clinical and Translational Neurology  (2014)

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

Mosbech, Mai-Britt; Olsen, Anne S. B.; Neess, Ditte; Ben-David, Oshrit; Klitten, Laura L.; Larsen, Jan; Sabers, Anne; Vissing, John; Nielsen, J?rgen E.; Hasholt, Lis; Klein, Andres D.; Tsoory, Michael M.; Hjalgrim, Helle; Tommerup, Niels; Futerman, Anthony H.; et. al.