TY  - GEN
AU  - Vanni,Nicola
AU  - Fruscione,Floriana
AU  - Ferlazzo,Edoardo
AU  - Striano,Pasquale
AU  - Robbiano,Angela
AU  - Traverso,Monica
AU  - Sander,Thomas
AU  - Falace,Antonio
AU  - Gazzerro,Elisabetta
AU  - Bramanti,Placido
AU  - Bielawski,Jacek
AU  - Fassio,Anna
AU  - Minetti,Carlo
AU  - Genton,Pierre
AU  - Zara,Federico
TI  - Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
SN  - 1531-8249
PY  - 2015///0209
KW  - Algeria
KW  - Ceramides
KW  - biosynthesis
KW  - Dementia
KW  - genetics
KW  - Endoplasmic Reticulum
KW  - Humans
KW  - Membrane Proteins
KW  - Mutation
KW  - Myoclonic Epilepsies, Progressive
KW  - Siblings
KW  - Sphingosine N-Acyltransferase
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ana.24170
ER  -