Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

Vanni, Nicola

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. [electronic resource] - Annals of neurology Aug 2014 - 206-12 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1531-8249

10.1002/ana.24170 doi


Algeria
Ceramides--biosynthesis
Dementia--genetics
Endoplasmic Reticulum--genetics
Humans
Membrane Proteins--genetics
Mutation--genetics
Myoclonic Epilepsies, Progressive--genetics
Siblings
Sphingosine N-Acyltransferase--genetics